# RGD-PIPELINE: ftp-file-extracts
# MODULE: annotations-version-1.1.9 (Oct 10, 2019)
# GENERATED-ON: 2025/01/11
# PURPOSE: annotations about active Dog objects extracted from RGD database
# ONTOLOGY: RDO: RGD Disease Ontology
# CONTACT: rgd.data@mcw.edu
# FORMAT: tab delimited text
# NOTES: multiple values in a single column are separated by '|'
#
#COLUMN INFORMATION:
#
#1   RGD_ID	          unique RGD_ID of the annotated object
#2   OBJECT_SYMBOL      official symbol of the annotated object
#3   OBJECT_NAME        official name of the annotated object
#4   OBJECT_TYPE        annotated object data type: one of ['gene','qtl','strain']
#5   TERM_ACC_ID        ontology term accession id
#6   TERM_NAME          ontology term name
#7   QUALIFIER          optional qualifier
#8   EVIDENCE           evidence
#9   WITH               with info
#10  ASPECT             aspect
#11  REFERENCES         db references (Reference RGDID|PUBMED ID)
#12  CREATED_DATE       created date
#13  ASSIGNED_BY        assigned by
#14  MESH_OMIM_ID       MESH:xxx or OMIM:xxx id corresponding to RDO:xxx id found in TERM_ACC_ID column (RGD/CTD Disease Ontology annotations only)
#15  CURATION_NOTES     curation notes provided by RGD curators
#16  ORIGINAL_REFERENCE original reference
RGD_ID	OBJECT_SYMBOL	OBJECT_NAME	OBJECT_TYPE	TERM_ACC_ID	TERM_NAME	QUALIFIER	EVIDENCE	WITH	ASPECT	REFERENCES	CREATED_DATE	ASSIGNED_BY	MESH_OMIM_ID	CURATION_NOTES	ORIGINAL_REFERENCE
12050156	ARSA	arylsulfatase A	gene	DOID:0050952	spastic ataxia		ISO	RGD:1321256	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:10477432|PMID:12809637|PMID:16678723|PMID:1671769|PMID:17560502|PMID:19815439|PMID:20339381|PMID:24001781|PMID:25741868|PMID:26462614|PMID:28492532|PMID:37480112|PMID:7866401
12050156	ARSA	arylsulfatase A	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1321256	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:11391650|PMID:21984749|PMID:21984750|PMID:21984751|PMID:25255310
12050156	ARSA	arylsulfatase A	gene	DOID:0060437	chromosome 22q13 duplication syndrome		ISO	RGD:1321256	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome	PMID:31690835
12050156	ARSA	arylsulfatase A	gene	DOID:0080354	Phelan-McDermid syndrome		ISO	RGD:1321256	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Phelan-McDermid syndrome	
12050156	ARSA	arylsulfatase A	gene	DOID:0080559	congenital disorder of glycosylation Ig		ISO	RGD:1321256	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation	PMID:15639192|PMID:28492532|PMID:31481313
12050156	ARSA	arylsulfatase A	gene	DOID:10579	leukodystrophy		ISO	RGD:1321256	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Leukodystrophy	PMID:10381328|PMID:14517960|PMID:1671769|PMID:20339381|PMID:23581857|PMID:25741868|PMID:28492532|PMID:32632536|PMID:37480112|PMID:7866401|PMID:8723680
12050156	ARSA	arylsulfatase A	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:1321256	D	RGD:7240710	20180130	OMIM			
12050156	ARSA	arylsulfatase A	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:1321256	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Arylsulfatase a pseudodeficiency, severe | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe	PMID:10220151|PMID:10381328|PMID:10459747|PMID:10477432|PMID:10533072|PMID:10751093|PMID:11013459|PMID:11020646|PMID:11061266|PMID:11456299|PMID:11777924|PMID:11941485|PMID:12035837|PMID:12081727|PMID:12086582|PMID:12116203|PMID:12445909|PMID:12503099|PMID:12788103|PMID:12809637|PMID:12809638|PMID:1284530|PMID:1353340|PMID:1357970|PMID:14517960|PMID:14571263|PMID:14680985|PMID:15026521|PMID:15139291|PMID:15211666|PMID:15326627|PMID:15375602|PMID:15710861|PMID:15720392|PMID:15952986|PMID:16110195|PMID:16199547|PMID:16546179|PMID:16678723|PMID:1670590|PMID:1671769|PMID:1673291|PMID:1674719|PMID:1676699|PMID:1678251|PMID:1684088|PMID:16966551|PMID:17413447|PMID:17438611|PMID:17560502|PMID:17576681|PMID:18693274|PMID:18768108|PMID:18786133|PMID:18832844|PMID:19021637|PMID:19154224|PMID:19565006|PMID:19606494|PMID:1975241|PMID:19815439|PMID:20141713|PMID:20301309|PMID:20339381|PMID:20646068|PMID:20890085|PMID:21080229|PMID:21167507|PMID:21265945|PMID:22216298|PMID:22798296|PMID:22854541|PMID:2299327|PMID:22993277|PMID:23208745|PMID:23559313|PMID:23581857|PMID:23701968|PMID:23845948|PMID:24001781|PMID:24033266|PMID:25297594|PMID:25344692|PMID:25482214|PMID:25525159|PMID:25741868|PMID:2574462|PMID:25965562|PMID:25987178|PMID:26000324|PMID:26131420|PMID:26462614|PMID:26467025|PMID:26553228|PMID:26890752|PMID:26915897|PMID:27261095|PMID:27289174|PMID:27374302|PMID:27779215|PMID:27904824|PMID:28296894|PMID:28492532|PMID:28667691|PMID:28670130|PMID:28749476|PMID:28762252|PMID:28799099|PMID:28923328|PMID:29379168|PMID:29457794|PMID:29544907|PMID:29915382|PMID:29961769|PMID:29966168|PMID:30026549|PMID:30052522|PMID:30057904|PMID:30293248|PMID:30674982|PMID:30828547|PMID:31130284|PMID:31186049|PMID:31312839|PMID:31664448|PMID:31694723|PMID:31922587|PMID:31922725|PMID:31967741|PMID:31969187|PMID:31980526|PMID:32113700|PMID:32617873|PMID:32632536|PMID:32860008|PMID:32875726|PMID:33046606|PMID:33138774|PMID:33335837|PMID:33385934|PMID:33855715|PMID:34490615|PMID:34554397|PMID:36240581|PMID:6122378|PMID:7581401|PMID:7649558|PMID:7815433|PMID:7815434|PMID:7825603|PMID:7833949|PMID:7858169|PMID:7860068|PMID:7866401|PMID:7902317|PMID:7906588|PMID:7909527|PMID:7981715|PMID:8095918|PMID:8101038|PMID:8101083|PMID:8104633|PMID:8455580|PMID:8723680|PMID:8891236|PMID:8962139|PMID:8982952|PMID:9090526|PMID:9096767|PMID:9192271|PMID:9272717|PMID:9402957|PMID:9452102|PMID:9490297|PMID:9536098|PMID:9600244|PMID:9668161|PMID:9744473|PMID:9819708|PMID:9888390
12050156	ARSA	arylsulfatase A	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:1321256	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy variant | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe	PMID:10220151|PMID:10381328|PMID:10459747|PMID:10477432|PMID:10533072|PMID:10751093|PMID:11013459|PMID:11020646|PMID:11061266|PMID:11456299|PMID:11777924|PMID:11941485|PMID:12035837|PMID:12081727|PMID:12086582|PMID:12116203|PMID:12445909|PMID:12503099|PMID:12788103|PMID:12809637|PMID:12809638|PMID:1284530|PMID:1353340|PMID:1357970|PMID:14517960|PMID:14571263|PMID:14680985|PMID:15026521|PMID:15139291|PMID:15211666|PMID:15326627|PMID:15375602|PMID:15710861|PMID:15720392|PMID:15952986|PMID:16110195|PMID:16199547|PMID:16546179|PMID:16678723|PMID:1670590|PMID:1671769|PMID:1673291|PMID:1674719|PMID:1676699|PMID:1678251|PMID:1684088|PMID:16966551|PMID:17413447|PMID:17438611|PMID:17560502|PMID:17576681|PMID:18693274|PMID:18768108|PMID:18786133|PMID:18832844|PMID:19021637|PMID:19154224|PMID:19565006|PMID:19606494|PMID:1975241|PMID:19815439|PMID:20141713|PMID:20301309|PMID:20339381|PMID:20646068|PMID:20890085|PMID:21080229|PMID:21167507|PMID:21265945|PMID:22216298|PMID:22798296|PMID:22854541|PMID:2299327|PMID:22993277|PMID:23208745|PMID:23559313|PMID:23581857|PMID:23701968|PMID:23845948|PMID:24001781|PMID:24033266|PMID:25297594|PMID:25344692|PMID:25482214|PMID:25525159|PMID:25741868|PMID:2574462|PMID:25965562|PMID:25987178|PMID:26000324|PMID:26131420|PMID:26462614|PMID:26467025|PMID:26553228|PMID:26890752|PMID:26915897|PMID:27261095|PMID:27289174|PMID:27374302|PMID:27779215|PMID:27904824|PMID:28296894|PMID:28492532|PMID:28667691|PMID:28670130|PMID:28749476|PMID:28762252|PMID:28799099|PMID:28923328|PMID:29379168|PMID:29457794|PMID:29544907|PMID:29915382|PMID:29961769|PMID:29966168|PMID:30026549|PMID:30052522|PMID:30057904|PMID:30293248|PMID:30674982|PMID:30828547|PMID:30834272|PMID:31069529|PMID:31130284|PMID:31186049|PMID:31312839|PMID:31664448|PMID:31694723|PMID:31922587|PMID:31922725|PMID:31967741|PMID:31969187|PMID:31980526|PMID:32034743|PMID:32113700|PMID:32617873|PMID:32632536|PMID:32860008|PMID:32875726|PMID:33046606|PMID:33138774|PMID:33185815|PMID:33335837|PMID:33385934|PMID:33855715|PMID:34276053|PMID:34490615|PMID:34554397|PMID:36240581|PMID:36324388|PMID:6122378|PMID:7581401|PMID:7649558|PMID:7749412|PMID:7815433|PMID:7815434|PMID:7825603|PMID:7833949|PMID:7858169|PMID:7860068|PMID:7866401|PMID:7902317|PMID:7906588|PMID:7909527|PMID:7981715|PMID:8095918|PMID:8101038|PMID:8101083|PMID:8104633|PMID:8455580|PMID:8723680|PMID:8891236|PMID:8962139|PMID:8982952|PMID:9090526|PMID:9096767|PMID:9192271|PMID:9272717|PMID:9402957|PMID:9452102|PMID:9490297|PMID:9536098|PMID:9600244|PMID:9668161|PMID:9744473|PMID:9819708|PMID:9888390
12050156	ARSA	arylsulfatase A	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:1321256	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe	PMID:10220151|PMID:10381328|PMID:10459747|PMID:10477432|PMID:10533072|PMID:10751093|PMID:11013459|PMID:11020646|PMID:11061266|PMID:11456299|PMID:11777924|PMID:11941485|PMID:12035837|PMID:12081727|PMID:12086582|PMID:12116203|PMID:12445909|PMID:12503099|PMID:12788103|PMID:12809637|PMID:12809638|PMID:1284530|PMID:1353340|PMID:1357970|PMID:14517960|PMID:14571263|PMID:14680985|PMID:15026521|PMID:15139291|PMID:15211666|PMID:15326627|PMID:15375602|PMID:15710861|PMID:15720392|PMID:15952986|PMID:16110195|PMID:16199547|PMID:16546179|PMID:16678723|PMID:1670590|PMID:1671769|PMID:1673291|PMID:1674719|PMID:1676699|PMID:1678251|PMID:1684088|PMID:16966551|PMID:17413447|PMID:17438611|PMID:17560502|PMID:17576681|PMID:18693274|PMID:18768108|PMID:18786133|PMID:18832844|PMID:19021637|PMID:19154224|PMID:19565006|PMID:19606494|PMID:1975241|PMID:19815439|PMID:20141713|PMID:20301309|PMID:20339381|PMID:20646068|PMID:20890085|PMID:21080229|PMID:21167507|PMID:21265945|PMID:22216298|PMID:22798296|PMID:22854541|PMID:2299327|PMID:22993277|PMID:23208745|PMID:23559313|PMID:23581857|PMID:23701968|PMID:23845948|PMID:24001781|PMID:24033266|PMID:25297594|PMID:25344692|PMID:25482214|PMID:25525159|PMID:25741868|PMID:2574462|PMID:25965562|PMID:25987178|PMID:26000324|PMID:26131420|PMID:26462614|PMID:26467025|PMID:26553228|PMID:26890752|PMID:26915897|PMID:27261095|PMID:27289174|PMID:27374302|PMID:27779215|PMID:27904824|PMID:28296894|PMID:28492532|PMID:28667691|PMID:28670130|PMID:28749476|PMID:28762252|PMID:28799099|PMID:28923328|PMID:29379168|PMID:29457794|PMID:29544907|PMID:29915382|PMID:29961769|PMID:29966168|PMID:30026549|PMID:30052522|PMID:30057904|PMID:30293248|PMID:30652456|PMID:30674982|PMID:30828547|PMID:30834272|PMID:30967997|PMID:31069529|PMID:31130284|PMID:31149247|PMID:31186049|PMID:31312839|PMID:31410132|PMID:31664448|PMID:31694723|PMID:31922587|PMID:31922725|PMID:31967741|PMID:31969187|PMID:31980526|PMID:32034743|PMID:32113700|PMID:32617873|PMID:32632536|PMID:32860008|PMID:32875726|PMID:33046606|PMID:33138774|PMID:33185815|PMID:33335837|PMID:33385934|PMID:33855715|PMID:34276053|PMID:34490615|PMID:34554397|PMID:36240581|PMID:36324388|PMID:37480112|PMID:6122378|PMID:7581401|PMID:7649558|PMID:7749412|PMID:7815433|PMID:7815434|PMID:7825603|PMID:7833949|PMID:7858169|PMID:7860068|PMID:7866401|PMID:7902317|PMID:7906588|PMID:7909527|PMID:7981715|PMID:8095918|PMID:8101038|PMID:8101083|PMID:8104633|PMID:8455580|PMID:8723680|PMID:8891236|PMID:8962139|PMID:8982952|PMID:9090526|PMID:9096767|PMID:9192271|PMID:9272717|PMID:9402957|PMID:9452102|PMID:9490297|PMID:9536098|PMID:9600244|PMID:9668161|PMID:9744473|PMID:9819708|PMID:9888390
12050156	ARSA	arylsulfatase A	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:1321256	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe	PMID:10220151|PMID:10381328|PMID:10459747|PMID:10477432|PMID:10533072|PMID:10751093|PMID:11013459|PMID:11020646|PMID:11061266|PMID:11456299|PMID:11777924|PMID:11941485|PMID:12035837|PMID:12081727|PMID:12086582|PMID:12116203|PMID:12445909|PMID:12503099|PMID:12788103|PMID:12809637|PMID:12809638|PMID:1284530|PMID:1353340|PMID:1357970|PMID:14517960|PMID:14571263|PMID:14680985|PMID:15026521|PMID:15139291|PMID:15211666|PMID:15326627|PMID:15375602|PMID:15710861|PMID:15720392|PMID:15952986|PMID:16110195|PMID:16199547|PMID:16546179|PMID:16678723|PMID:1670590|PMID:1671769|PMID:1673291|PMID:1674719|PMID:1676699|PMID:1678251|PMID:1684088|PMID:16966551|PMID:17413447|PMID:17438611|PMID:17560502|PMID:17576681|PMID:18693274|PMID:18768108|PMID:18786133|PMID:18832844|PMID:19021637|PMID:19154224|PMID:19565006|PMID:19606494|PMID:1975241|PMID:19815439|PMID:20141713|PMID:20301309|PMID:20339381|PMID:20646068|PMID:20890085|PMID:21080229|PMID:21167507|PMID:21265945|PMID:22216298|PMID:22798296|PMID:22854541|PMID:2299327|PMID:22993277|PMID:23208745|PMID:23559313|PMID:23581857|PMID:23701968|PMID:23845948|PMID:24001781|PMID:24033266|PMID:25297594|PMID:25344692|PMID:25482214|PMID:25525159|PMID:25741868|PMID:2574462|PMID:25965562|PMID:25987178|PMID:26000324|PMID:26131420|PMID:26462614|PMID:26467025|PMID:26553228|PMID:26890752|PMID:26915897|PMID:27261095|PMID:27289174|PMID:27374302|PMID:27779215|PMID:27904824|PMID:28296894|PMID:28492532|PMID:28667691|PMID:28670130|PMID:28749476|PMID:28762252|PMID:28799099|PMID:28923328|PMID:29379168|PMID:29457794|PMID:29544907|PMID:29915382|PMID:29961769|PMID:29966168|PMID:30026549|PMID:30052522|PMID:30057904|PMID:30293248|PMID:30652456|PMID:30674982|PMID:30828547|PMID:30834272|PMID:30967997|PMID:31069529|PMID:31130284|PMID:31149247|PMID:31186049|PMID:31312839|PMID:31410132|PMID:31664448|PMID:31694723|PMID:31922587|PMID:31922725|PMID:31967741|PMID:31969187|PMID:32034743|PMID:32113700|PMID:32617873|PMID:32632536|PMID:32860008|PMID:32875726|PMID:33046606|PMID:33138774|PMID:33185815|PMID:33335837|PMID:33385934|PMID:33855715|PMID:34276053|PMID:34490615|PMID:34554397|PMID:36240581|PMID:36324388|PMID:37480112|PMID:6122378|PMID:7581401|PMID:7635478|PMID:7649558|PMID:7749412|PMID:7815433|PMID:7815434|PMID:7825603|PMID:7833949|PMID:7858169|PMID:7860068|PMID:7866401|PMID:7902317|PMID:7906588|PMID:7909527|PMID:7981715|PMID:8095918|PMID:8101038|PMID:8101083|PMID:8104633|PMID:8455580|PMID:8723680|PMID:8891236|PMID:8962139|PMID:8982952|PMID:9090526|PMID:9096767|PMID:9192271|PMID:9272717|PMID:9402957|PMID:9452102|PMID:9490297|PMID:9536098|PMID:9600244|PMID:9668161|PMID:9744473|PMID:9819708|PMID:9888390
12050156	ARSA	arylsulfatase A	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:1321256	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Arylsulfatase A Deficiency | ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe	PMID:10220151|PMID:10381328|PMID:10459747|PMID:10477432|PMID:10533072|PMID:10751093|PMID:11013459|PMID:11020646|PMID:11061266|PMID:11456299|PMID:11777924|PMID:11941485|PMID:12035837|PMID:12081727|PMID:12086582|PMID:12116203|PMID:12445909|PMID:12503099|PMID:12788103|PMID:12809637|PMID:12809638|PMID:1284530|PMID:1353340|PMID:1357970|PMID:14517960|PMID:14571263|PMID:14680985|PMID:15026521|PMID:15139291|PMID:15211666|PMID:15326627|PMID:15375602|PMID:15710861|PMID:15720392|PMID:15952986|PMID:16110195|PMID:16199547|PMID:16546179|PMID:16678723|PMID:1670590|PMID:1671769|PMID:1673291|PMID:1674719|PMID:1676699|PMID:1678251|PMID:1684088|PMID:16966551|PMID:17413447|PMID:17438611|PMID:17560502|PMID:17576681|PMID:18693274|PMID:18768108|PMID:18786133|PMID:18832844|PMID:19021637|PMID:19154224|PMID:19565006|PMID:19606494|PMID:1975241|PMID:19815439|PMID:20141713|PMID:20301309|PMID:20339381|PMID:20646068|PMID:20890085|PMID:21080229|PMID:21167507|PMID:21265945|PMID:22216298|PMID:22798296|PMID:22854541|PMID:2299327|PMID:22993277|PMID:23208745|PMID:23559313|PMID:23581857|PMID:23701968|PMID:23845948|PMID:24001781|PMID:24033266|PMID:25297594|PMID:25344692|PMID:25482214|PMID:25525159|PMID:25741868|PMID:2574462|PMID:25965562|PMID:25987178|PMID:26000324|PMID:26131420|PMID:26462614|PMID:26467025|PMID:26553228|PMID:26890752|PMID:26915897|PMID:27261095|PMID:27289174|PMID:27374302|PMID:27779215|PMID:27904824|PMID:28296894|PMID:28492532|PMID:28667691|PMID:28670130|PMID:28749476|PMID:28762252|PMID:28799099|PMID:28923328|PMID:29379168|PMID:29457794|PMID:29544907|PMID:29915382|PMID:29961769|PMID:29966168|PMID:30026549|PMID:30052522|PMID:30057904|PMID:30293248|PMID:30652456|PMID:30674982|PMID:30828547|PMID:30834272|PMID:30967997|PMID:31069529|PMID:31130284|PMID:31149247|PMID:31186049|PMID:31312839|PMID:31410132|PMID:31664448|PMID:31694723|PMID:31922587|PMID:31922725|PMID:31967741|PMID:31969187|PMID:32034743|PMID:32113700|PMID:32617873|PMID:32632536|PMID:32860008|PMID:32875726|PMID:33046606|PMID:33138774|PMID:33185815|PMID:33335837|PMID:33385934|PMID:33855715|PMID:34276053|PMID:34490615|PMID:34554397|PMID:36240581|PMID:36324388|PMID:37480112|PMID:6122378|PMID:7581401|PMID:7635478|PMID:7649558|PMID:7749412|PMID:7815433|PMID:7815434|PMID:7825603|PMID:7833949|PMID:7858169|PMID:7860068|PMID:7866401|PMID:7902317|PMID:7906588|PMID:7909527|PMID:7981715|PMID:8095918|PMID:8101038|PMID:8101083|PMID:8104633|PMID:8455580|PMID:8558556|PMID:8723680|PMID:8891236|PMID:8962139|PMID:8982952|PMID:9090526|PMID:9096767|PMID:9192271|PMID:9272717|PMID:9402957|PMID:9452102|PMID:9490297|PMID:9536098|PMID:9600244|PMID:9668161|PMID:9744473|PMID:9819708|PMID:9888390
12050156	ARSA	arylsulfatase A	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:1321256	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Arylsulfatase A pseudodeficiency | ClinVar Annotator: match by term: Cerebroside sulfatase deficiency | ClinVar Annotator: match by term: Metachromatic leukodystrophy | ClinVar Annotator: match by term: Metachromatic leukodystrophy variant | ClinVar Annotator: match by term: Metachromatic leukodystrophy, adult type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, juvenile type | ClinVar Annotator: match by term: Metachromatic leukodystrophy, late infantile | ClinVar Annotator: match by term: Metachromatic leukodystrophy, mild | ClinVar Annotator: match by term: Metachromatic leukodystrophy, severe	PMID:10220151|PMID:10381328|PMID:10459747|PMID:10477432|PMID:10533072|PMID:10751093|PMID:11013459|PMID:11020646|PMID:11061266|PMID:11456299|PMID:11777924|PMID:11941485|PMID:12035837|PMID:12081727|PMID:12086582|PMID:12116203|PMID:12445909|PMID:12503099|PMID:12788103|PMID:12809637|PMID:12809638|PMID:1284530|PMID:1353340|PMID:1357970|PMID:14517960|PMID:14571263|PMID:14680985|PMID:15026521|PMID:15139291|PMID:15211666|PMID:15326627|PMID:15375602|PMID:15710861|PMID:15720392|PMID:15952986|PMID:16110195|PMID:16199547|PMID:16546179|PMID:16678723|PMID:1670590|PMID:1671769|PMID:1673291|PMID:1674719|PMID:1676699|PMID:1678251|PMID:1684088|PMID:16966551|PMID:17413447|PMID:17438611|PMID:17560502|PMID:17576681|PMID:18693274|PMID:18768108|PMID:18786133|PMID:18832844|PMID:19021637|PMID:19154224|PMID:19565006|PMID:19606494|PMID:1975241|PMID:19815439|PMID:20141713|PMID:20220177|PMID:20301309|PMID:20339381|PMID:20646068|PMID:20890085|PMID:21080229|PMID:21167507|PMID:21265945|PMID:22216298|PMID:22798296|PMID:22854541|PMID:2299327|PMID:22993277|PMID:23208745|PMID:23559313|PMID:23581857|PMID:23701968|PMID:23845948|PMID:24001781|PMID:24033266|PMID:25297594|PMID:25344692|PMID:25482214|PMID:25525159|PMID:25741868|PMID:2574462|PMID:25965562|PMID:25987178|PMID:26000324|PMID:26131420|PMID:26462614|PMID:26467025|PMID:26553228|PMID:26890752|PMID:26915897|PMID:27261095|PMID:27289174|PMID:27374302|PMID:27779215|PMID:27904824|PMID:28296894|PMID:28492532|PMID:28667691|PMID:28670130|PMID:28749476|PMID:28762252|PMID:28799099|PMID:28923328|PMID:29379168|PMID:29457794|PMID:29544907|PMID:29915382|PMID:29961769|PMID:29966168|PMID:30026549|PMID:30052522|PMID:30057904|PMID:30293248|PMID:30652456|PMID:30674982|PMID:30828547|PMID:30834272|PMID:30967997|PMID:31069529|PMID:31130284|PMID:31149247|PMID:31186049|PMID:31312839|PMID:31410132|PMID:31664448|PMID:31694723|PMID:31922587|PMID:31922725|PMID:31967741|PMID:31969187|PMID:32034743|PMID:32113700|PMID:32617873|PMID:32632536|PMID:32860008|PMID:32875726|PMID:32950023|PMID:33046606|PMID:33138774|PMID:33185815|PMID:33335837|PMID:33385934|PMID:33505345|PMID:33855715|PMID:34276053|PMID:34490615|PMID:34554397|PMID:36240581|PMID:36324388|PMID:37480112|PMID:37848385|PMID:38458124|PMID:6122378|PMID:7581401|PMID:7635478|PMID:7649558|PMID:7749412|PMID:7815433|PMID:7815434|PMID:7825603|PMID:7833949|PMID:7858169|PMID:7860068|PMID:7866401|PMID:7902317|PMID:7906588|PMID:7909527|PMID:7981715|PMID:8095918|PMID:8101038|PMID:8101083|PMID:8104633|PMID:8455580|PMID:8558556|PMID:8723680|PMID:8891236|PMID:8962139|PMID:8982952|PMID:9090526|PMID:9096767|PMID:9192271|PMID:9272717|PMID:9375919|PMID:9402957|PMID:9452102|PMID:9490297|PMID:9536098|PMID:9600244|PMID:9668161|PMID:9744473|PMID:9819708|PMID:9888390
12050156	ARSA	arylsulfatase A	gene	DOID:1059	intellectual disability		ISO	RGD:1321256	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:10477432|PMID:11456299|PMID:11777924|PMID:11941485|PMID:15326627|PMID:15375602|PMID:15952986|PMID:16199547|PMID:16546179|PMID:1670590|PMID:1671769|PMID:18786133|PMID:19815439|PMID:20301309|PMID:20339381|PMID:21167507|PMID:25741868|PMID:26131420|PMID:26462614|PMID:26467025|PMID:27289174|PMID:28296894|PMID:28492532|PMID:28762252|PMID:28923328|PMID:29457794|PMID:29915382|PMID:29961769|PMID:30026549|PMID:31186049|PMID:31967741|PMID:32632536|PMID:37480112|PMID:7815434|PMID:7825603|PMID:7866401|PMID:8095918|PMID:8455580|PMID:8962139|PMID:9090526|PMID:9096767|PMID:9600244
12050156	ARSA	arylsulfatase A	gene	DOID:13938	amenorrhea		ISO	RGD:1321256	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:21681106
12050156	ARSA	arylsulfatase A	gene	DOID:1459	hypothyroidism		ISO	RGD:1310381	D	RGD:9068941	20200609	RGD			PMID:7901316|REF_RGD_ID:1599223
12050156	ARSA	arylsulfatase A	gene	DOID:630	genetic disease		ISO	RGD:1321256	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10220151|PMID:10477432|PMID:10533072|PMID:11456299|PMID:12081727|PMID:12116203|PMID:12809637|PMID:14517960|PMID:15139291|PMID:15326627|PMID:15952986|PMID:16199547|PMID:16678723|PMID:1670590|PMID:1671769|PMID:1684088|PMID:16966551|PMID:17560502|PMID:17576681|PMID:18693274|PMID:18786133|PMID:19021637|PMID:19815439|PMID:20301309|PMID:20339381|PMID:21167507|PMID:23701968|PMID:24001781|PMID:24033266|PMID:25741868|PMID:25965562|PMID:26462614|PMID:26467025|PMID:26890752|PMID:27779215|PMID:28492532|PMID:28762252|PMID:28923328|PMID:30052522|PMID:30674982|PMID:31130284|PMID:31186049|PMID:31922725|PMID:32632536|PMID:32875726|PMID:33046606|PMID:33335837|PMID:34554397|PMID:37480112|PMID:7815434|PMID:7825603|PMID:7866401|PMID:7902317|PMID:7981715|PMID:8095918|PMID:8101038|PMID:8455580|PMID:8962139|PMID:9090526|PMID:9096767|PMID:9536098|PMID:9600244
12050156	ARSA	arylsulfatase A	gene	DOID:9002922	Pseudoarylsulfatase A Deficiency		ISO	RGD:1321256	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Pseudoarylsulfatase A deficiency	PMID:15326627|PMID:15720392|PMID:24001781|PMID:25741868|PMID:26462614|PMID:28492532|PMID:28670130|PMID:31922725|PMID:32632536|PMID:37480112|PMID:8101038
12050156	ARSA	arylsulfatase A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1321256	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:10477432|PMID:11456299|PMID:15952986|PMID:16199547|PMID:1670590|PMID:1671769|PMID:18786133|PMID:20301309|PMID:21167507|PMID:25741868|PMID:26462614|PMID:28492532|PMID:28923328|PMID:7815434|PMID:7825603|PMID:8095918|PMID:8455580|PMID:8962139|PMID:9090526|PMID:9096767|PMID:9600244
12050156	ARSA	arylsulfatase A	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1321256	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:15326627|PMID:15720392|PMID:24001781|PMID:25741868|PMID:26462614|PMID:28492532|PMID:28670130|PMID:31922725|PMID:32632536|PMID:37480112|PMID:8101038
12050156	ARSA	arylsulfatase A	gene	DOID:9007448	Autosomal Sideroblastic Anemia		ISO	RGD:1321256	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autosomal recessive sideroblastic anemia	PMID:25741868
12050156	ARSA	arylsulfatase A	gene	DOID:9255	frontotemporal dementia		ISO	RGD:1321256	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia	PMID:10477432|PMID:12809637|PMID:1353340|PMID:16678723|PMID:18693274|PMID:18786133|PMID:19606494|PMID:23559313|PMID:25741868|PMID:25965562|PMID:26131420|PMID:26462614|PMID:28492532|PMID:31694723|PMID:33855715|PMID:37480112
12050156	ARSA	arylsulfatase A	gene	DOID:9273	citrullinemia		ISO	RGD:1321256	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Citrullinemia	PMID:25741868|PMID:26467025|PMID:28492532|PMID:28670130|PMID:37480112
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:0050541	Charcot-Marie-Tooth disease type 4		ISO	RGD:735595	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4	PMID:28492532
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:0050561	Lennox-Gastaut syndrome		ISO	RGD:735595	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy Lennox-Gastaut type	PMID:23020937|PMID:23934111|PMID:24851285|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26582918|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29655203|PMID:30578330|PMID:31177578|PMID:31238879|PMID:34356170
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:735595	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:0081118	benign familial infantile seizures 5		ISO	RGD:735595	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: CONVULSIONS, BENIGN FAMILIAL INFANTILE, 5	PMID:23020937|PMID:23934111|PMID:24851285|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26582918|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29655203|PMID:30578330|PMID:31177578|PMID:31238879|PMID:34356170
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:10283	prostate cancer		ISO	RGD:735595	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	PMID:23265383
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:1059	intellectual disability		ISO	RGD:735595	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, mild | ClinVar Annotator: match by term: intellectual disabilities	PMID:18625963|PMID:19344764|PMID:19464834|PMID:21703448|PMID:22612257|PMID:23020937|PMID:23596459|PMID:23934111|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26582918|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29655203|PMID:30578330|PMID:31177578|PMID:31238879|PMID:34356170
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:1059	intellectual disability		ISO	RGD:735595	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities	PMID:18625963|PMID:19344764|PMID:19464834|PMID:21703448|PMID:22612257|PMID:23020937|PMID:23596459|PMID:23934111|PMID:24851285|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26582918|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29655203|PMID:30578330|PMID:31177578|PMID:31238879|PMID:34356170
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:11832	visual epilepsy		ISO	RGD:735595	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Seizure | ClinVar Annotator: match by term: Seizures	PMID:16235065|PMID:17765802|PMID:18625963|PMID:19344764|PMID:19464834|PMID:21703448|PMID:22612257|PMID:23596459|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611|PMID:29383681|PMID:29852413|PMID:31440727
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:12849	autistic disorder		ISO	RGD:735595	D	RGD:9068941	20250109	RGD		DNA:missense mutation:cds:p.574S (rs74582884) (human)	PMID:23596459|REF_RGD_ID:9686430
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:14264	benign neonatal seizures		ISO	RGD:735595	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Benign Neonatal Epilepsy | ClinVar Annotator: match by term: Benign neonatal seizures	PMID:14534157|PMID:16199547|PMID:16235065|PMID:16883520|PMID:17576681|PMID:17765802|PMID:18249525|PMID:18354422|PMID:18625963|PMID:19344764|PMID:19464834|PMID:20437616|PMID:21687499|PMID:21703448|PMID:22612257|PMID:23020937|PMID:23146207|PMID:23360469|PMID:23596459|PMID:23934111|PMID:24375629|PMID:24851285|PMID:25052858|PMID:25278462|PMID:25524373|PMID:25640679|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26467025|PMID:26582918|PMID:27888506|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29358611|PMID:29383681|PMID:29655203|PMID:29778030|PMID:29808309|PMID:29852413|PMID:29924869|PMID:30348901|PMID:30578330|PMID:30782577|PMID:31177578|PMID:31238879|PMID:31440727|PMID:31785789|PMID:31981491|PMID:32086284|PMID:32613771|PMID:33004838|PMID:33149276|PMID:34356170|PMID:35627274|PMID:9425900|PMID:9536098
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:14777	benign familial neonatal epilepsy		ISO	RGD:735595	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Benign familial neonatal epilepsy | ClinVar Annotator: match by term: Benign familial neonatal seizures	PMID:18249525|PMID:18625963|PMID:19344764|PMID:19464834|PMID:21703448|PMID:22612257|PMID:23020937|PMID:23146207|PMID:23596459|PMID:23934111|PMID:24375629|PMID:24851285|PMID:25052858|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26467025|PMID:26582918|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29358611|PMID:29655203|PMID:30348901|PMID:30578330|PMID:31177578|PMID:31238879|PMID:33004838|PMID:34356170
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:1826	epilepsy		ISO	RGD:735595	D	RGD:8554872	20221213	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:28492532
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:1826	epilepsy		ISO	RGD:735595	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:28492532|PMID:29383681|PMID:29852413|PMID:31440727
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:3329	benign epilepsy with centrotemporal spikes		ISO	RGD:735595	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Rolandic epilepsy	PMID:18625963|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29358611
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:630	genetic disease		ISO	RGD:735595	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:14534157|PMID:16235065|PMID:17576681|PMID:17765802|PMID:18354422|PMID:18625963|PMID:19167866|PMID:19344764|PMID:19464834|PMID:20437616|PMID:21687499|PMID:21703448|PMID:22612257|PMID:23020937|PMID:23360469|PMID:23596459|PMID:23934111|PMID:24375629|PMID:25194482|PMID:25740509|PMID:25741868|PMID:26467025|PMID:28135719|PMID:28492532|PMID:29358611|PMID:29778030|PMID:29808309|PMID:29924869|PMID:30348901|PMID:30578330|PMID:32086284|PMID:33004838|PMID:35627274|PMID:9536098
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:9002211	Hyperalgesia		ISO	RGD:69222	D	RGD:9068941	20200609	RGD		associated with Bone Neoplasms;protein:decreased expression:dorsal root ganglia (rat)	PMID:23352759|REF_RGD_ID:9686417
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:9003109	Benign Familial Neonatal Seizures, 2		ISO	RGD:735595	D	RGD:7240710	20180130	OMIM			
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:9003109	Benign Familial Neonatal Seizures, 2		ISO	RGD:735595	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Autosomal dominant form of benign neonatal seizures | ClinVar Annotator: match by term: KCNQ3-related condition | ClinVar Annotator: match by term: Seizures, benign familial neonatal, 2	PMID:10852552|PMID:14534157|PMID:16235065|PMID:16883520|PMID:17576681|PMID:17765802|PMID:18249525|PMID:18354422|PMID:18425618|PMID:1859177|PMID:18625963|PMID:19167866|PMID:19344764|PMID:19464834|PMID:20437616|PMID:21687499|PMID:21703448|PMID:22612257|PMID:23020937|PMID:23146207|PMID:23360469|PMID:23596459|PMID:23934111|PMID:24375629|PMID:24851285|PMID:25052858|PMID:25278462|PMID:25524373|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26467025|PMID:26582918|PMID:27888506|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29358611|PMID:29655203|PMID:30348901|PMID:30578330|PMID:30782577|PMID:31177578|PMID:31238879|PMID:31785789|PMID:32086284|PMID:33004838|PMID:34356170|PMID:9425900|PMID:9536098
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:735595	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:23020937|PMID:23934111|PMID:24851285|PMID:25740509|PMID:25741868|PMID:26350515|PMID:26582918|PMID:28135719|PMID:28492532|PMID:28628100|PMID:29655203|PMID:30578330|PMID:31177578|PMID:31238879|PMID:34356170
12050166	KCNQ3	potassium voltage-gated channel subfamily Q member 3	gene	DOID:9008582	Developmental Disease		ISO	RGD:735595	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12050184	SORBS3	sorbin and SH3 domain containing 3	gene	DOID:9007617	Conotruncal Cardiac Defects		ISO	RGD:1604395	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Conotruncal heart malformations	PMID:28492532
12050245	BCAR3	BCAR3 adaptor protein, NSP family member	gene	DOID:303	substance-related disorder		ISO	RGD:36174057	D	RGD:9068941	20210129	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
12050245	BCAR3	BCAR3 adaptor protein, NSP family member	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:36174057	D	RGD:9068941	20210129	CTD		CTD Direct Evidence: marker/mechanism	PMID:19075277
12050290	CA4	carbonic anhydrase 4	gene	DOID:0110404	retinitis pigmentosa 17		ISO	RGD:1353429	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: CA4-related condition | ClinVar Annotator: match by term: Retinitis pigmentosa 17	PMID:15090652|PMID:15295099|PMID:15563508|PMID:17652713|PMID:19211803|PMID:20238024|PMID:20450258|PMID:20626030|PMID:25741868|PMID:28492532|PMID:33022222|PMID:7581389|PMID:9385361
12050290	CA4	carbonic anhydrase 4	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1353429	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis	PMID:28492532
12050290	CA4	carbonic anhydrase 4	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1353429	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Retinitis Pigmentosa, Dominant | ClinVar Annotator: match by term: Retinitis pigmentosa | ClinVar Annotator: match by term: Tapetoretinal degeneration	PMID:15090652|PMID:15295099|PMID:15563508|PMID:17576681|PMID:20238024|PMID:20626030|PMID:25741868|PMID:28492532|PMID:29343940|PMID:33022222|PMID:7581389|PMID:9385361|PMID:9536098
12050290	CA4	carbonic anhydrase 4	gene	DOID:10584	retinitis pigmentosa	susceptibility	ISO	RGD:1353429	D	RGD:9068941	20200609	RGD			PMID:15090652|REF_RGD_ID:1600730
12050290	CA4	carbonic anhydrase 4	gene	DOID:11372	megacolon		ISO	RGD:1353429	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Megacolon	PMID:21681106
12050290	CA4	carbonic anhydrase 4	gene	DOID:8501	fundus dystrophy		ISO	RGD:1353429	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:17652713|PMID:19211803|PMID:20450258|PMID:28492532|PMID:30718709|PMID:33022222
12050290	CA4	carbonic anhydrase 4	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1332428	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15059925
12050305	FN3KRP	fructosamine 3 kinase related protein	gene	DOID:9001793	Generalized Epilepsy		ISO	RGD:1606224	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:28492532
12050309	IL11RA	interleukin 11 receptor subunit alpha	gene	DOID:0060205	frontotemporal dementia and/or amyotrophic lateral sclerosis 6		ISO	RGD:732444	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	PMID:28492532
12050309	IL11RA	interleukin 11 receptor subunit alpha	gene	DOID:0070434	hyperphosphatasia with impaired intellectual development syndrome 2		ISO	RGD:732444	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6	PMID:22683086|PMID:24417746|PMID:28492532
12050309	IL11RA	interleukin 11 receptor subunit alpha	gene	DOID:0080050	acromesomelic dysplasia, Maroteaux type		ISO	RGD:732444	D	RGD:8554872	20230314	ClinVar		ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type	PMID:28492532
12050309	IL11RA	interleukin 11 receptor subunit alpha	gene	DOID:0080942	anauxetic dysplasia		ISO	RGD:732444	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Anauxetic dysplasia	PMID:28492532
12050309	IL11RA	interleukin 11 receptor subunit alpha	gene	DOID:0111065	autosomal recessive distal hereditary motor neuronopathy 2		ISO	RGD:732444	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autosomal recessive distal spinal muscular atrophy 2	PMID:28492532
12050309	IL11RA	interleukin 11 receptor subunit alpha	gene	DOID:0111597	distal arthrogryposis type 1A		ISO	RGD:732444	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A	PMID:28492532
12050309	IL11RA	interleukin 11 receptor subunit alpha	gene	DOID:607	paraplegia		ISO	RGD:732444	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:23332916|PMID:23332917|PMID:28492532
12050309	IL11RA	interleukin 11 receptor subunit alpha	gene	DOID:9001911	Craniosynostosis and Dental Anomalies		ISO	RGD:732444	D	RGD:7240710	20180130	OMIM			
12050309	IL11RA	interleukin 11 receptor subunit alpha	gene	DOID:9001911	Craniosynostosis and Dental Anomalies		ISO	RGD:732444	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: Craniosynostosis and dental anomalies | ClinVar Annotator: match by term: IL11RA-related condition	PMID:21741611|PMID:24498618|PMID:25741868|PMID:28492532|PMID:32860008|PMID:34906502
12050309	IL11RA	interleukin 11 receptor subunit alpha	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:732444	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11161848
12050309	IL11RA	interleukin 11 receptor subunit alpha	gene	DOID:9004649	Heat Stroke		ISO	RGD:1553290	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24039931
12050309	IL11RA	interleukin 11 receptor subunit alpha	gene	DOID:9008216	Craniosynostosis Syndrome, Autosomal Recessive		ISO	RGD:732444	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Craniosynostosis syndrome	PMID:25741868|PMID:31837199
12050309	IL11RA	interleukin 11 receptor subunit alpha	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:732444	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:28492532
12050309	IL11RA	interleukin 11 receptor subunit alpha	gene	DOID:9870	galactosemia		ISO	RGD:732444	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	PMID:11286505|PMID:15841485|PMID:17079880|PMID:22944367|PMID:28492532
12050329	ENAM	enamelin	gene	DOID:0110052	amelogenesis imperfecta type 1B		ISO	RGD:1315614	D	RGD:7240710	20180130	OMIM			
12050329	ENAM	enamelin	gene	DOID:0110052	amelogenesis imperfecta type 1B		ISO	RGD:1315614	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant | ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local | ClinVar Annotator: match by term: Amelogenesis imperfecta type 1B	PMID:11487571|PMID:11978766|PMID:12828988|PMID:14684688|PMID:16246937|PMID:17125728|PMID:19329462|PMID:20439930|PMID:21597265|PMID:22414746|PMID:25741868|PMID:28334996|PMID:28492532|PMID:31478359|PMID:33864320
12050329	ENAM	enamelin	gene	DOID:0110056	amelogenesis imperfecta type 1C		ISO	RGD:1315614	D	RGD:7240710	20180130	OMIM			
12050329	ENAM	enamelin	gene	DOID:0110056	amelogenesis imperfecta type 1C		ISO	RGD:1315614	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Amelogenesis imperfecta type 1C | ClinVar Annotator: match by term: Amelogenesis imperfecta, type IC	PMID:14684688|PMID:16246937|PMID:17125728|PMID:19329462|PMID:20439930|PMID:21597265|PMID:28492532
12050329	ENAM	enamelin	gene	DOID:2187	amelogenesis imperfecta		IAGP		D	RGD:12801476	20230823	OMIA		Amelogenesis imperfecta, ENAM-related	PMID:23638899|PMID:29201383|PMID:29744112|PMID:30877375|PMID:37582787
12050329	ENAM	enamelin	gene	DOID:2187	amelogenesis imperfecta		ISO	RGD:1315614	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Amelogenesis imperfecta | ClinVar Annotator: match by term: Congenital enamel hypoplasia	PMID:25741868|PMID:28492532
12050329	ENAM	enamelin	gene	DOID:630	genetic disease		ISO	RGD:1315614	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12050344	ZFP69B	ZFP69 zinc finger protein B	gene	DOID:0110199	Charcot-Marie-Tooth disease dominant intermediate C		ISO	RGD:1350662	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C	PMID:28492532
12050359	ONECUT2	one cut homeobox 2	gene	DOID:0050770	polycystic liver disease		ISO	RGD:1354460	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital cystic disease of liver	
12050359	ONECUT2	one cut homeobox 2	gene	DOID:0060980	polycystic liver disease 1		ISO	RGD:1354460	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Isolated autosomal dominant polycystic liver disease	
12050359	ONECUT2	one cut homeobox 2	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1354460	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease	
12050359	ONECUT2	one cut homeobox 2	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1354460	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29581250
12050376	CNKSR3	CNKSR family member 3	gene	DOID:0060424	chromosome 6q24-q25 deletion syndrome		ISO	RGD:1316799	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Chromosome 6q24-q25 deletion syndrome	PMID:25741868|PMID:38177409
12050399	RCN3	reticulocalbin 3	gene	DOID:0080459	developmental and epileptic encephalopathy 12		ISO	RGD:1346169	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12	PMID:28492532
12050399	RCN3	reticulocalbin 3	gene	DOID:8398	osteoarthritis		ISO	RGD:1346169	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
12050410	MAP4	microtubule associated protein 4	gene	DOID:0060165	Kleine-Levin syndrome		ISO	RGD:1343248	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Kleine-Levin syndrome	
12050410	MAP4	microtubule associated protein 4	gene	DOID:9002795	Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy		ISO	RGD:1343248	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	PMID:28492532
12050410	MAP4	microtubule associated protein 4	gene	DOID:9004657	Weight Gain		ISO	RGD:1343248	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
12050501	GHRH	growth hormone releasing hormone	gene	DOID:0050167	autoimmune polyendocrine syndrome type 1		ISO	RGD:737566	D	RGD:9068941	20200609	RGD			PMID:22506635|REF_RGD_ID:10401267
12050501	GHRH	growth hormone releasing hormone	gene	DOID:0050848	obstructive sleep apnea		ISO	RGD:737566	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma (human)	PMID:16750036|REF_RGD_ID:5687742
12050501	GHRH	growth hormone releasing hormone	gene	DOID:0050848	obstructive sleep apnea	treatment	ISO	RGD:62175	D	RGD:9068941	20200609	RGD			PMID:23815362|REF_RGD_ID:10401240
12050501	GHRH	growth hormone releasing hormone	gene	DOID:0060873	isolated growth hormone deficiency type IA		ISO	RGD:62175	D	RGD:9068941	20220825	MouseDO		OMIM:262400	
12050501	GHRH	growth hormone releasing hormone	gene	DOID:10286	prostate carcinoma		ISO	RGD:737566	D	RGD:9068941	20200609	RGD		mRNA:increased expression:prostate	PMID:12364462|REF_RGD_ID:2289976
12050501	GHRH	growth hormone releasing hormone	gene	DOID:10652	Alzheimer's disease	treatment	ISO	RGD:62175	D	RGD:9068941	20200609	RGD			PMID:23211425|REF_RGD_ID:10401233
12050501	GHRH	growth hormone releasing hormone	gene	DOID:11132	prostatic hypertrophy	treatment	ISO	RGD:61883	D	RGD:9068941	20200609	RGD			PMID:21321192|PMID:22341819|REF_RGD_ID:10401238|REF_RGD_ID:10401264
12050501	GHRH	growth hormone releasing hormone	gene	DOID:11396	pulmonary edema		ISO	RGD:737566	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:22308467
12050501	GHRH	growth hormone releasing hormone	gene	DOID:1380	endometrial cancer		ISO	RGD:737566	D	RGD:9068941	20200609	RGD			PMID:15784701|REF_RGD_ID:2301423
12050501	GHRH	growth hormone releasing hormone	gene	DOID:1380	endometrial cancer		ISO	RGD:737566	D	RGD:9068941	20200609	RGD		mRNA:increased expression:tumor:expression in 17/22 specimens	PMID:10022420|REF_RGD_ID:2289974
12050501	GHRH	growth hormone releasing hormone	gene	DOID:1612	breast cancer		ISO	RGD:737566	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor:colloid, lobular, and infiltrating ductal carcinomas	PMID:1973621|REF_RGD_ID:2289972
12050501	GHRH	growth hormone releasing hormone	gene	DOID:2234	focal epilepsy		ISO	RGD:737566	D	RGD:8554872	20230221	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:32581362
12050501	GHRH	growth hormone releasing hormone	gene	DOID:2394	ovarian cancer		ISO	RGD:737566	D	RGD:9068941	20200609	RGD			PMID:11710593|REF_RGD_ID:2301424
12050501	GHRH	growth hormone releasing hormone	gene	DOID:2394	ovarian cancer		ISO	RGD:737566	D	RGD:9068941	20200609	RGD		mRNA:increased expression:endometrium	PMID:11163834|REF_RGD_ID:2301425
12050501	GHRH	growth hormone releasing hormone	gene	DOID:2394	ovarian cancer		ISO	RGD:737566	D	RGD:9068941	20200609	RGD		mRNA:increased expression:tumor:expression in 17/22 specimens	PMID:10022420|REF_RGD_ID:2289974
12050501	GHRH	growth hormone releasing hormone	gene	DOID:289	endometriosis		ISO	RGD:737566	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:ovary	PMID:11163834|REF_RGD_ID:2301425
12050501	GHRH	growth hormone releasing hormone	gene	DOID:4450	renal cell carcinoma		ISO	RGD:737566	D	RGD:9068941	20200609	RGD			PMID:10962030|REF_RGD_ID:2301426
12050501	GHRH	growth hormone releasing hormone	gene	DOID:5212	congenital disorder of glycosylation		ISO	RGD:737566	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Congenital disorder of glycosylation	PMID:28492532
12050501	GHRH	growth hormone releasing hormone	gene	DOID:535	sleep disorder		ISO	RGD:61883	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain, multiple (rat)	PMID:16859658|REF_RGD_ID:5687196
12050501	GHRH	growth hormone releasing hormone	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:61883	D	RGD:9068941	20200609	RGD			PMID:24373935|REF_RGD_ID:10401242
12050501	GHRH	growth hormone releasing hormone	gene	DOID:9002234	Pituitary Neoplasms		ISO	RGD:737566	D	RGD:9068941	20200609	RGD		Adenoma; human gene in mouse model	PMID:1425411|REF_RGD_ID:5687177
12050501	GHRH	growth hormone releasing hormone	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis	resistance	ISO	RGD:62175	D	RGD:9068941	20200609	RGD			PMID:21846799|REF_RGD_ID:5687168
12050501	GHRH	growth hormone releasing hormone	gene	DOID:9002775	Cognitive Dysfunction	treatment	ISO	RGD:737566	D	RGD:9068941	20200609	RGD			PMID:23689947|REF_RGD_ID:10401232
12050501	GHRH	growth hormone releasing hormone	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:61883	D	RGD:9068941	20200609	RGD			PMID:22393012|REF_RGD_ID:10401241
12050501	GHRH	growth hormone releasing hormone	gene	DOID:9007827	Upper Airway Obstruction		ISO	RGD:61883	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:hypothalamus (rat)	PMID:21406516|REF_RGD_ID:5687169
12050501	GHRH	growth hormone releasing hormone	gene	DOID:9007867	Aicardi-Goutieres Syndrome 5		ISO	RGD:737566	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5	PMID:28492532
12050514	BRAP	BRCA1 associated protein	gene	DOID:5844	myocardial infarction		ISO	RGD:1348068	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19198608
12050540	FOXM1	forkhead box M1	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1604404	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:13679865
12050540	FOXM1	forkhead box M1	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1604404	D	RGD:9068941	20220217	RGD		protein:increased expression:stomach (human)	PMID:25482013|REF_RGD_ID:151356929
12050540	FOXM1	forkhead box M1	gene	DOID:11714	gestational diabetes		ISO	RGD:62099	D	RGD:9068941	20200609	RGD			PMID:19833884|REF_RGD_ID:2315927
12050540	FOXM1	forkhead box M1	gene	DOID:1240	leukemia		ISO	RGD:1604404	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19436953
12050540	FOXM1	forkhead box M1	gene	DOID:1324	lung cancer		ISO	RGD:62099	D	RGD:9068941	20220825	MouseDO		OMIM:211980 | OMIM:608935 | OMIM:612571 | OMIM:612593 | OMIM:614210	
12050540	FOXM1	forkhead box M1	gene	DOID:2986	IgA glomerulonephritis		ISO	RGD:1604404	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25133636
12050540	FOXM1	forkhead box M1	gene	DOID:3498	pancreatic ductal adenocarcinoma	disease_progression	ISO	RGD:1604404	D	RGD:9068941	20230225	RGD			PMID:24859161|REF_RGD_ID:156430321
12050540	FOXM1	forkhead box M1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1604404	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18345025|PMID:19672312
12050540	FOXM1	forkhead box M1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604404	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15082532|PMID:17173139|PMID:28284560
12050540	FOXM1	forkhead box M1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:62099	D	RGD:9068941	20220825	MouseDO		OMIM:114550	
12050540	FOXM1	forkhead box M1	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1604404	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15082532
12050540	FOXM1	forkhead box M1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1604404	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16489016|PMID:23255470
12050540	FOXM1	forkhead box M1	gene	DOID:9007992	Hyperphosphatemic Familial Tumoral Calcinosis 1		ISO	RGD:1604404	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1	PMID:25378588|PMID:29389098
12050540	FOXM1	forkhead box M1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1604404	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20208560
12050540	FOXM1	forkhead box M1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:62099	D	RGD:9068941	20220825	MouseDO		OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036	
12050560	CFAP45	cilia and flagella associated protein 45	gene	DOID:0081242	autoimmune interstitial lung, joint, and kidney disease		ISO	RGD:1604370	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome	PMID:28492532
12050560	CFAP45	cilia and flagella associated protein 45	gene	DOID:1540	parathyroid carcinoma		ISO	RGD:1604370	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Parathyroid carcinoma	PMID:28492532
12050560	CFAP45	cilia and flagella associated protein 45	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1604370	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:26928227
12050560	CFAP45	cilia and flagella associated protein 45	gene	DOID:9002158	Visceral Heterotaxy 11, Autosomal		ISO	RGD:1604370	D	RGD:7240710	20211201	OMIM			
12050560	CFAP45	cilia and flagella associated protein 45	gene	DOID:9002158	Visceral Heterotaxy 11, Autosomal		ISO	RGD:1604370	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Heterotaxy, visceral, 11, autosomal, with male infertility	PMID:33139725
12050560	CFAP45	cilia and flagella associated protein 45	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1604370	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:28492532
12050574	RAI1	retinoic acid induced 1	gene	DOID:0050676	Birt-Hogg-Dube syndrome		ISO	RGD:1318304	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome	PMID:20188345|PMID:28492532
12050574	RAI1	retinoic acid induced 1	gene	DOID:0050888	syndromic intellectual disability		ISO	RGD:1318304	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Syndromic intellectual disability	PMID:25741868
12050574	RAI1	retinoic acid induced 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1318304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20981775
12050574	RAI1	retinoic acid induced 1	gene	DOID:0060768	Smith-Magenis syndrome		ISO	RGD:1318304	D	RGD:7240710	20180130	OMIM			
12050574	RAI1	retinoic acid induced 1	gene	DOID:0060768	Smith-Magenis syndrome		ISO	RGD:1318304	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Chromosome 17p11.2 deletion syndrome | ClinVar Annotator: match by term: Smith-Magenis syndrome	PMID:12652298|PMID:15788730|PMID:21857958|PMID:22578325|PMID:24033266|PMID:25087610|PMID:25741868|PMID:26467025|PMID:27082237|PMID:27884173|PMID:28135719|PMID:28166811|PMID:28492532|PMID:29758562|PMID:31690835
12050574	RAI1	retinoic acid induced 1	gene	DOID:0060768	Smith-Magenis syndrome		ISO	RGD:1318304	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: RAI1-related condition | ClinVar Annotator: match by term: Smith-Magenis syndrome	PMID:12652298|PMID:15788730|PMID:18414213|PMID:21857958|PMID:22578325|PMID:24033266|PMID:25087610|PMID:25741868|PMID:26467025|PMID:27082237|PMID:27884173|PMID:28057753|PMID:28135719|PMID:28492532|PMID:29458409|PMID:29758562|PMID:29794985|PMID:31690835|PMID:35887114|PMID:8841119
12050574	RAI1	retinoic acid induced 1	gene	DOID:0060853	Potocki-Lupski syndrome		ISO	RGD:1318304	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Potocki-Lupski syndrome	PMID:28837307
12050574	RAI1	retinoic acid induced 1	gene	DOID:0081145	common variable immunodeficiency 2		ISO	RGD:1318304	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Immunodeficiency, common variable, 2	PMID:28492532
12050574	RAI1	retinoic acid induced 1	gene	DOID:0110535	autosomal recessive nonsyndromic deafness 9		ISO	RGD:1318304	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 9	PMID:25741868|PMID:27082237|PMID:28492532
12050574	RAI1	retinoic acid induced 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1318304	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis	PMID:28492532
12050574	RAI1	retinoic acid induced 1	gene	DOID:1059	intellectual disability		ISO	RGD:1318304	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25167861|PMID:25741868
12050574	RAI1	retinoic acid induced 1	gene	DOID:12849	autistic disorder		ISO	RGD:1318304	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
12050574	RAI1	retinoic acid induced 1	gene	DOID:1909	melanoma		ISO	RGD:1318304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
12050574	RAI1	retinoic acid induced 1	gene	DOID:2030	anxiety disorder		ISO	RGD:1318304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18285828
12050574	RAI1	retinoic acid induced 1	gene	DOID:630	genetic disease		ISO	RGD:1318304	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18414213|PMID:21857958|PMID:24033266|PMID:25741868|PMID:26467025|PMID:27082237|PMID:27884173|PMID:28057753|PMID:28492532|PMID:29458409|PMID:8841119
12050574	RAI1	retinoic acid induced 1	gene	DOID:9001366	Psychomotor Agitation		ISO	RGD:1318304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18285828
12050574	RAI1	retinoic acid induced 1	gene	DOID:9001476	Yuan-Harel-Lupski Syndrome		ISO	RGD:1318304	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Yuan-Harel-Lupski syndrome	PMID:28492532
12050574	RAI1	retinoic acid induced 1	gene	DOID:9002111	Dyssomnias		ISO	RGD:1318304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19752160
12050574	RAI1	retinoic acid induced 1	gene	DOID:9002320	Neurobehavioral Manifestations		ISO	RGD:1318304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19116176
12050574	RAI1	retinoic acid induced 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1318304	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12050574	RAI1	retinoic acid induced 1	gene	DOID:9006257	Growth Disorders		ISO	RGD:1318304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18285828
12050574	RAI1	retinoic acid induced 1	gene	DOID:9008582	Developmental Disease		ISO	RGD:1318304	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12050574	RAI1	retinoic acid induced 1	gene	DOID:9008681	Deafness		ISO	RGD:1318304	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Deafness	PMID:28492532
12050574	RAI1	retinoic acid induced 1	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1318304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19116176
12050574	RAI1	retinoic acid induced 1	gene	DOID:9970	obesity		ISO	RGD:1318304	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15459175|PMID:19116176
12050589	TMEM63C	transmembrane protein 63C	gene	DOID:0070456	hereditary spastic paraplegia 87		ISO	RGD:1320973	D	RGD:7240710	20220810	OMIM			
12050589	TMEM63C	transmembrane protein 63C	gene	DOID:0070456	hereditary spastic paraplegia 87		ISO	RGD:1320973	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia 87, autosomal recessive	PMID:35718349
12050589	TMEM63C	transmembrane protein 63C	gene	DOID:1059	intellectual disability		ISO	RGD:1320973	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability, mild	
12050589	TMEM63C	transmembrane protein 63C	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:1320973	D	RGD:9068941	20210820	RGD		protein:decreased expression:kidney,renal glomerulus (human)	PMID:30900988|REF_RGD_ID:15023481
12050589	TMEM63C	transmembrane protein 63C	gene	DOID:9001542	Albuminuria		ISO	RGD:1310207	D	RGD:9068941	20210820	RGD		mRNA:increased expression:kidney,renal glomerulus (rat)	PMID:30900988|REF_RGD_ID:15023481
12050630	KCNK13	potassium two pore domain channel subfamily K member 13	gene	DOID:0080054	achondrogenesis type IA		ISO	RGD:68985	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Achondrogenesis, type IA	PMID:28492532
12050630	KCNK13	potassium two pore domain channel subfamily K member 13	gene	DOID:0080600	COVID-19		ISO	RGD:68985	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12050637	AJAP1	adherens junctions associated protein 1	gene	DOID:0060410	chromosome 1p36 deletion syndrome		ISO	RGD:1603390	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome	
12050637	AJAP1	adherens junctions associated protein 1	gene	DOID:12712	nephronophthisis		ISO	RGD:1603390	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:28492532
12050637	AJAP1	adherens junctions associated protein 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1603390	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12050689	FAM163B	family with sequence similarity 163 member B	gene	DOID:0060352	Kleefstra syndrome 1		ISO	RGD:1604863	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Kleefstra syndrome 1	PMID:22318994|PMID:22890305|PMID:28492532|PMID:31209758
12050689	FAM163B	family with sequence similarity 163 member B	gene	DOID:0070244	primary coenzyme Q10 deficiency 7		ISO	RGD:1604863	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	PMID:28492532
12050689	FAM163B	family with sequence similarity 163 member B	gene	DOID:0080324	tuberous sclerosis 1		ISO	RGD:1604863	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Tuberous sclerosis 1	PMID:28492532
12050689	FAM163B	family with sequence similarity 163 member B	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1604863	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14	PMID:28492532
12050689	FAM163B	family with sequence similarity 163 member B	gene	DOID:0081097	Rafiq syndrome		ISO	RGD:1604863	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Rafiq syndrome	PMID:28492532
12050689	FAM163B	family with sequence similarity 163 member B	gene	DOID:14720	Ehlers-Danlos syndrome classic type 1		ISO	RGD:1604863	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1	PMID:28492532
12050689	FAM163B	family with sequence similarity 163 member B	gene	DOID:3652	Leigh disease		ISO	RGD:1604863	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:28492532
12050711	PKN1	protein kinase N1	gene	DOID:9002514	Neointima	ameliorates	ISO	RGD:69308	D	RGD:9068941	20230413	RGD			PMID:22893700|REF_RGD_ID:243065233
12050762	TMEM191C	transmembrane protein 191C	gene	DOID:0060413	chromosome 22q11.2 deletion syndrome, distal		ISO	RGD:1641960	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal	PMID:21681106|PMID:25741868|PMID:31690835|PMID:38177409
12050762	TMEM191C	transmembrane protein 191C	gene	DOID:11198	DiGeorge syndrome		ISO	RGD:1641960	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: DiGeorge syndrome	PMID:32581362
12050762	TMEM191C	transmembrane protein 191C	gene	DOID:12849	autistic disorder		ISO	RGD:1641960	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:0112168	autosomal dominant nonsyndromic deafness 77		ISO	RGD:1344624	D	RGD:7240710	20200701	OMIM			
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:0112168	autosomal dominant nonsyndromic deafness 77		ISO	RGD:1344624	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: ABCC1-related condition | ClinVar Annotator: match by term: Deafness, autosomal dominant 77	PMID:25741868|PMID:28492532|PMID:31273342
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:10919	D	RGD:9068941	20200609	RGD			PMID:25991605|REF_RGD_ID:13801010
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:10763	hypertension		ISO	RGD:1344624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17272743
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:114	heart disease		ISO	RGD:1344624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16330681
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:12849	autistic disorder		ISO	RGD:1344624	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:1324	lung cancer	treatment	ISO	RGD:10919	D	RGD:9068941	20220901	RGD			PMID:35289739|REF_RGD_ID:153344587
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:1826	epilepsy		ISO	RGD:1344624	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Epilepsy	
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:2738	pseudoxanthoma elasticum		ISO	RGD:1344624	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Gronblad Strandberg syndrome	PMID:11439001|PMID:16541094
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:2841	asthma		ISO	RGD:10919	D	RGD:9068941	20200609	RGD			PMID:18931056|REF_RGD_ID:5128825
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:3083	chronic obstructive pulmonary disease	severity	ISO	RGD:1344624	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs212093, rs4148382 (human)	PMID:20487524|REF_RGD_ID:5128824
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:3083	chronic obstructive pulmonary disease	severity	ISO	RGD:1344624	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:respiratory epithelial cell	PMID:12930913|REF_RGD_ID:5128827
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:5419	schizophrenia		ISO	RGD:1344624	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1344624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25275603
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1344624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864405
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:8445	intestinal volvulus		ISO	RGD:1344624	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: INTESTINAL MALROTATION, FAMILIAL	PMID:25741868
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:874	bacterial pneumonia		ISO	RGD:10919	D	RGD:9068941	20200609	RGD			PMID:11238654|REF_RGD_ID:5128828
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:9000918	Disease Progression		ISO	RGD:1344624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25078270
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:1344624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18256692
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1344624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18466103
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:9007521	Desbuquois Dysplasia 1		ISO	RGD:1344624	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Desbuquois dysplasia 1	PMID:24581741|PMID:26601923|PMID:28492532|PMID:30554721
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:9008419	Volvulus Of Midgut		ISO	RGD:1344624	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Volvulus of midgut	PMID:25741868
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1344624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1344624	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25078270
12050846	ABCC1	ATP binding cassette subfamily C member 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1344624	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:619569	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:33171190
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:0060500	drug allergy		ISO	RGD:619569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20216337
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:619569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29341352
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	severity	ISO	RGD:619569	D	RGD:9068941	20200609	RGD		DNA:SNPs:exon:p.Glu1188Val(rs17222723),p.Tyr1515Cys(rs8187710)(human)	PMID:18926681|REF_RGD_ID:14700775
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:114	heart disease		ISO	RGD:619569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16330681
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:2366	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver	PMID:15770136|REF_RGD_ID:14700810
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:619569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15542527
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:12308	Dubin-Johnson syndrome		ISO	RGD:619569	D	RGD:7240710	20180130	OMIM			
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:12308	Dubin-Johnson syndrome		ISO	RGD:619569	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: ABCC2-related condition | ClinVar Annotator: match by term: Dubin-Johnson syndrome	PMID:10053008|PMID:10464142|PMID:11093739|PMID:11266082|PMID:11477083|PMID:11901087|PMID:12087194|PMID:12388192|PMID:12395335|PMID:12942343|PMID:15180328|PMID:15519273|PMID:15777714|PMID:15821043|PMID:15870973|PMID:16199547|PMID:16377077|PMID:16549534|PMID:16766035|PMID:16847695|PMID:16952291|PMID:17576681|PMID:18334920|PMID:18445995|PMID:18673259|PMID:18974617|PMID:20799350|PMID:20849526|PMID:20981092|PMID:21044052|PMID:21449672|PMID:21691255|PMID:22290738|PMID:22318656|PMID:23429660|PMID:23557583|PMID:24033266|PMID:25087612|PMID:25111166|PMID:25336012|PMID:25741868|PMID:27604170|PMID:27706244|PMID:27882152|PMID:28492532|PMID:28713894|PMID:29499989|PMID:30344695|PMID:30366773|PMID:30675866|PMID:31450232|PMID:31544333|PMID:31564432|PMID:32183854|PMID:32758197|PMID:33470920|PMID:33585635|PMID:33713692|PMID:34150028|PMID:34426522|PMID:34858902|PMID:35477852|PMID:36135330|PMID:36777185|PMID:9185779|PMID:9425227|PMID:9536098|PMID:9878557
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:12308	Dubin-Johnson syndrome	susceptibility	ISO	RGD:619569	D	RGD:9068941	20200609	RGD			PMID:10053008|REF_RGD_ID:1598616
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:13250	diarrhea		ISO	RGD:619569	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:32387182
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:13580	cholestasis		ISO	RGD:2366	D	RGD:9068941	20200609	RGD			PMID:12702498|PMID:16037978|PMID:17009103|REF_RGD_ID:11081011|REF_RGD_ID:1598571|REF_RGD_ID:1598614
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:13580	cholestasis		ISO	RGD:2366	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:intestine:	PMID:15057744|REF_RGD_ID:11081007
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:13580	cholestasis		ISO	RGD:619569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10869290|PMID:17681005|PMID:22521610
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:13580	cholestasis	disease_progression	ISO	RGD:619569	D	RGD:9068941	20200609	RGD		protein:decreased expression:intestine:	PMID:15057744|REF_RGD_ID:11081007
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:13580	cholestasis	treatment	ISO	RGD:2366	D	RGD:9068941	20200609	RGD		mRNA:altered expression:liver (rat)	PMID:27090119|REF_RGD_ID:15090804
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:1793	pancreatic cancer		ISO	RGD:619569	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:pancreas	PMID:19020751|REF_RGD_ID:2317509
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:1824	status epilepticus		ISO	RGD:2366	D	RGD:9068941	20200609	RGD			PMID:16504477|REF_RGD_ID:1598613
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:1824	status epilepticus		ISO	RGD:619569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16504477
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:1826	epilepsy	treatment	ISO	RGD:2366	D	RGD:9068941	20241107	RGD			PMID:12663688|REF_RGD_ID:704399
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:2044	drug-induced hepatitis	no_association	ISO	RGD:619569	D	RGD:9068941	20200609	RGD		DNA:SNPs:multiple:	PMID:22178260|REF_RGD_ID:14700817
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:2044	drug-induced hepatitis	susceptibility	ISO	RGD:619569	D	RGD:9068941	20200609	RGD		DNA:polymorphisms,haplotype:promoter:g.-1774delG,g.-1549G>A(human)	PMID:17502832|REF_RGD_ID:14700816
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:2738	pseudoxanthoma elasticum		ISO	RGD:619569	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Gronblad Strandberg syndrome	PMID:15870973|PMID:28492532|PMID:29499989|PMID:9878557
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:10368	D	RGD:9068941	20200609	RGD			PMID:16899240|REF_RGD_ID:1598605
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:2366	D	RGD:9068941	20200609	RGD			PMID:16899240|REF_RGD_ID:1598605
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:2366	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:liver	PMID:8662992|REF_RGD_ID:631914
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:619569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16611851
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:619569	D	RGD:9068941	20200609	RGD			PMID:16899240|REF_RGD_ID:1598605
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:2741	bilirubin metabolic disorder	treatment	ISO	RGD:619569	D	RGD:9068941	20200609	RGD			PMID:15846474|REF_RGD_ID:11081004
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:619569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21206495
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:619569	D	RGD:9068941	20200609	RGD		DNA:SNPs: :-24C>T, 3972C>T(human)	PMID:17534875|REF_RGD_ID:11080964
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:4947	cholangiocarcinoma	susceptibility	ISO	RGD:619569	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:c.3972C>T (human)	PMID:19451719|REF_RGD_ID:2317508
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:619569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25275603
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:630	genetic disease		ISO	RGD:619569	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16549534|PMID:16952291|PMID:25741868|PMID:28492532|PMID:31450232|PMID:9185779
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:619569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23897011
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:77	gastrointestinal system disease		ISO	RGD:619569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18381794
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:783	end stage renal disease		ISO	RGD:2366	D	RGD:9068941	20200609	RGD			PMID:17135344|REF_RGD_ID:2301067
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:8552	chronic myeloid leukemia	treatment	ISO	RGD:619569	D	RGD:9068941	20200609	RGD		DNA:haploltype: :-24C>T, 1249G>A, 3972C>T(human)	PMID:25060527|REF_RGD_ID:11080961
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:863	nervous system disease		ISO	RGD:619569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21064136
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:619569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9004486	Drug-induced Neutropenia	no_association	ISO	RGD:619569	D	RGD:9068941	20200609	RGD		associated with neoplasm;DNA:SNP:rs12762549(human)	PMID:23188068|REF_RGD_ID:11080999
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9004486	Drug-induced Neutropenia	susceptibility	ISO	RGD:619569	D	RGD:9068941	20200609	RGD		associated with neoplasm;DNA:SNP:rs12762549(human)	PMID:18294295|REF_RGD_ID:11080980
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:2366	D	RGD:9068941	20200609	RGD			PMID:16899240|REF_RGD_ID:1598605
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9004593	Drug-Induced Immune Thrombocytopenia	susceptibility	ISO	RGD:619569	D	RGD:9068941	20200609	RGD		associated with Carcinoma, Non-Small-Cell Lung;DNA:SNP, haplotype:promoter,cds: 3972C>T, -24C>T(human)	PMID:20943283|REF_RGD_ID:11080978
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2366	D	RGD:9068941	20200609	RGD		mRNA: increased expression: brain	PMID:17664251|REF_RGD_ID:2312730
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2366	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:20487213|REF_RGD_ID:11541075
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2366	D	RGD:9068941	20200609	RGD		protein: increased expression	PMID:19356064|REF_RGD_ID:2312728
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9005930	Endotoxemia		ISO	RGD:2366	D	RGD:9068941	20200609	RGD			PMID:16572733|REF_RGD_ID:1598611
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:619569	D	RGD:9068941	20201106	CTD		CTD Direct Evidence: marker/mechanism	PMID:20216337|PMID:23222202|PMID:25007187|PMID:32387182
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:619569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18381794|PMID:18466103
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:619569	D	RGD:9068941	20200609	RGD			PMID:25196354|REF_RGD_ID:14700812
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury	susceptibility	ISO	RGD:619569	D	RGD:9068941	20200609	RGD		DNA:polymorphism:promoter:-24C>T(human)	PMID:17241877|REF_RGD_ID:14700814
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:619569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22294766
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:10368	D	RGD:9068941	20200609	RGD		protein: increased expression	PMID:18189363|REF_RGD_ID:2312726
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2366	D	RGD:9068941	20200609	RGD		mRNA: decreased expression: liver	PMID:15319330|REF_RGD_ID:2312736
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2366	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:25152023|REF_RGD_ID:14700811
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9452	steatotic liver disease		ISO	RGD:2366	D	RGD:9068941	20200609	RGD			PMID:16139386|REF_RGD_ID:1598602
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:987	alopecia		ISO	RGD:619569	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18381794
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9952	acute lymphoblastic leukemia	treatment	ISO	RGD:619569	D	RGD:9068941	20200609	RGD		DNA:SNP:5'UTR:rs717620(human)	PMID:24404132|REF_RGD_ID:11080959
12050879	ABCC2	ATP binding cassette subfamily C member 2	gene	DOID:9952	acute lymphoblastic leukemia	treatment	ISO	RGD:619569	D	RGD:9068941	20200609	RGD		DNA:SNPs: :rs717620(human)	PMID:25007187|REF_RGD_ID:11080979
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:628847	D	RGD:9068941	20200609	RGD		associated with Liver Neoplasms, Experimental;protein:decreased expression:liver	PMID:18081878|REF_RGD_ID:2304231
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:736023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21317887
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:10652	Alzheimer's disease		ISO	RGD:736023	D	RGD:9068941	20200609	RGD		protein:increased expression:brain,CA1 field of hippocampus:	PMID:11208906|REF_RGD_ID:10412676
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:12098	trigeminal neuralgia		ISO	RGD:736023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27093858
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:13619	extrahepatic cholestasis		ISO	RGD:736023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28789951
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:2237	hepatitis		ISO	RGD:736024	D	RGD:9068941	20220811	RGD			PMID:25173965|REF_RGD_ID:153305943
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:2349	arteriosclerosis		ISO	RGD:736024	D	RGD:9068941	20200609	RGD			PMID:15567863|REF_RGD_ID:1582314
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:326	ischemia		ISO	RGD:736023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19667931
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:4074	pancreatic adenocarcinoma		ISO	RGD:736023	D	RGD:9068941	20200609	RGD			PMID:22517435|REF_RGD_ID:14348976
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:736023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21779479
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:736023	D	RGD:9068941	20200609	RGD		associated with Colorectal Neoplasms	PMID:25205654|REF_RGD_ID:13217416
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:9002211	Hyperalgesia		ISO	RGD:736023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27093858
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:736023	D	RGD:9068941	20201015	CTD		CTD Direct Evidence: marker/mechanism	PMID:32512071
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:736023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19667931|PMID:20302854
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:9006205	Animal Disease Models		ISO	RGD:736023	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27093858
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:9256	colorectal cancer	treatment	ISO	RGD:736023	D	RGD:9068941	20200609	RGD			PMID:25205654|REF_RGD_ID:13217416
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:628847	D	RGD:9068941	20200609	RGD		protein:hyperphosphorylation:pancreatic islet:	PMID:21911753|REF_RGD_ID:13506785
12050914	MAPK9	mitogen-activated protein kinase 9	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736023	D	RGD:9068941	20200609	RGD		protein:hyperphosphorylation:pancreatic islet:	PMID:21911753|REF_RGD_ID:13506785
12050945	SRPK2	SRSF protein kinase 2	gene	DOID:3312	bipolar disorder		ISO	RGD:1312944	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31043756
12050945	SRPK2	SRSF protein kinase 2	gene	DOID:4852	pleomorphic xanthoastrocytoma		ISO	RGD:1312944	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma	PMID:28299358
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1349063	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:0060238	Van Maldergem syndrome		ISO	RGD:1349063	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24056717
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:0080585	Van Maldergem syndrome 1		ISO	RGD:1349063	D	RGD:7240710	20190327	OMIM			
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:0080585	Van Maldergem syndrome 1		ISO	RGD:1349063	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Van Maldergem syndrome 1	PMID:22473091|PMID:24056717|PMID:25741868|PMID:28492532|PMID:28518168|PMID:32461654
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:2661	myoepithelioma		ISO	RGD:1349063	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	PMID:28492532|PMID:32381727
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:4977	lymphedema		ISO	RGD:1349063	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Lymphedema	PMID:25741868|PMID:28492532
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:630	genetic disease		ISO	RGD:1349063	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26258302|PMID:28492532|PMID:28518168|PMID:30755392|PMID:32461654
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:9002205	Periventricular Nodular Heterotopia 2		ISO	RGD:1349063	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24056717
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:9002971	Myxomatous Mitral Valve Prolapse 2		ISO	RGD:1349063	D	RGD:7240710	20180130	OMIM			
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:9002971	Myxomatous Mitral Valve Prolapse 2		ISO	RGD:1349063	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: DCHS1-related disorder | ClinVar Annotator: match by term: Mitral valve prolapse, myxomatous 2	PMID:12707861|PMID:17576681|PMID:25741868|PMID:26258302|PMID:28492532|PMID:28518168|PMID:32461654|PMID:9536098
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1349063	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868|PMID:28492532|PMID:30755392
12050981	DCHS1	dachsous cadherin-related 1	gene	DOID:988	mitral valve prolapse		ISO	RGD:1616539	D	RGD:9068941	20220825	MouseDO		OMIM:157700 | OMIM:607829 | OMIM:610840	
12051006	ITGA9	integrin subunit alpha 9	gene	DOID:0050451	Brugada syndrome		ISO	RGD:1322518	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Brugada syndrome	PMID:20129283|PMID:22789973|PMID:28492532
12051006	ITGA9	integrin subunit alpha 9	gene	DOID:10763	hypertension	susceptibility	ISO	RGD:1322518	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs155524(human)	PMID:20479155|REF_RGD_ID:13602005
12051006	ITGA9	integrin subunit alpha 9	gene	DOID:1793	pancreatic cancer		ISO	RGD:1322518	D	RGD:9068941	20200609	RGD		DNA:mutations:exon	PMID:18772397|REF_RGD_ID:5490966
12051006	ITGA9	integrin subunit alpha 9	gene	DOID:3526	cerebral infarction	susceptibility	ISO	RGD:1322518	D	RGD:9068941	20200609	RGD		DNA:SNPs,haplotype:rs189897,rs2212020(human)	PMID:21764681|REF_RGD_ID:13602007
12051006	ITGA9	integrin subunit alpha 9	gene	DOID:3883	Lynch syndrome		ISO	RGD:1322518	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms	PMID:14504054|PMID:15849733|PMID:16181381|PMID:20864636|PMID:21286667|PMID:28492532
12051006	ITGA9	integrin subunit alpha 9	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1322518	D	RGD:9068941	20220908	RGD		mRNA:decreased expression:lung (human)	PMID:22491060|REF_RGD_ID:153350086
12051006	ITGA9	integrin subunit alpha 9	gene	DOID:9008496	Visceral Heterotaxy 4, Autosomal		ISO	RGD:1322518	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Heterotaxy, visceral, 4, autosomal	PMID:28492532
12051066	PAIP2	poly(A) binding protein interacting protein 2	gene	DOID:0070061	autosomal dominant intellectual developmental disorder 31		ISO	RGD:1312240	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	PMID:28492532
12051066	PAIP2	poly(A) binding protein interacting protein 2	gene	DOID:0080409	familial adenomatous polyposis 1		ISO	RGD:1312240	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Familial adenomatous polyposis 1	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
12051066	PAIP2	poly(A) binding protein interacting protein 2	gene	DOID:0111457	STING-associated vasculopathy with onset in infancy		ISO	RGD:1312240	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy	PMID:28492532
12051066	PAIP2	poly(A) binding protein interacting protein 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1312240	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12051066	PAIP2	poly(A) binding protein interacting protein 2	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1312240	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
12051066	PAIP2	poly(A) binding protein interacting protein 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1312240	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25944804
12051082	CLDN8	claudin 8	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1318427	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:28377727
12051087	KIFBP	kinesin family binding protein	gene	DOID:0060481	Goldberg-Shprintzen syndrome		ISO	RGD:1317800	D	RGD:7240710	20190315	OMIM			
12051087	KIFBP	kinesin family binding protein	gene	DOID:0060481	Goldberg-Shprintzen syndrome		ISO	RGD:1317800	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome | ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome	PMID:15883926|PMID:18414213|PMID:23427148|PMID:24072599|PMID:24901346|PMID:25741868|PMID:26467025|PMID:28277559|PMID:28492532|PMID:32939943|PMID:39033378
12051087	KIFBP	kinesin family binding protein	gene	DOID:0090131	complex cortical dysplasia with other brain malformations		ISO	RGD:1317800	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15883926
12051087	KIFBP	kinesin family binding protein	gene	DOID:1059	intellectual disability		ISO	RGD:1317800	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15883926
12051087	KIFBP	kinesin family binding protein	gene	DOID:10907	microcephaly		ISO	RGD:1317800	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15883926
12051087	KIFBP	kinesin family binding protein	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1317800	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:25741868
12051087	KIFBP	kinesin family binding protein	gene	DOID:870	neuropathy		ISO	RGD:1317800	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:25741868
12051087	KIFBP	kinesin family binding protein	gene	DOID:9007185	Shprintzen-Goldberg Craniosynostosis		ISO	RGD:1317800	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Goldberg-Shprintzen syndrome	PMID:15883926|PMID:18414213|PMID:23427148|PMID:24072599|PMID:24901346|PMID:25741868|PMID:26467025|PMID:28277559|PMID:28492532|PMID:32939943|PMID:39033378
12051098	LRRC36	leucine rich repeat containing 36	gene	DOID:0070023	autosomal dominant dyskeratosis congenita 6		ISO	RGD:1605363	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 6	PMID:28492532
12051098	LRRC36	leucine rich repeat containing 36	gene	DOID:9008870	Chromosome 16q12 Duplication Syndrome		ISO	RGD:1605363	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome	PMID:25741868
12051136	HDHD2	haloacid dehalogenase like hydrolase domain containing 2	gene	DOID:0060356	Vici syndrome		ISO	RGD:1348609	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Vici syndrome	PMID:28492532
12051136	HDHD2	haloacid dehalogenase like hydrolase domain containing 2	gene	DOID:0060407	chromosome 18q deletion syndrome		ISO	RGD:1348609	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Monosomy 18q, deletion 18q	PMID:31690835
12051136	HDHD2	haloacid dehalogenase like hydrolase domain containing 2	gene	DOID:1059	intellectual disability		ISO	RGD:1348609	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12051136	HDHD2	haloacid dehalogenase like hydrolase domain containing 2	gene	DOID:9002791	Microcephaly, Epilepsy, and Diabetes Syndrome		ISO	RGD:1348609	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly, epilepsy, and diabetes syndrome	PMID:28492532
12051136	HDHD2	haloacid dehalogenase like hydrolase domain containing 2	gene	DOID:9004657	Weight Gain		ISO	RGD:1348609	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
12051150	GPRASP3	G protein-coupled receptor associated sorting protein family member 3	gene	DOID:0060799	syndromic X-linked intellectual disability Lubs type		ISO	RGD:1347976	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type	PMID:25741868
12051150	GPRASP3	G protein-coupled receptor associated sorting protein family member 3	gene	DOID:0111823	autosomal hemophilia A		ISO	RGD:1347976	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A	PMID:31690835
12051150	GPRASP3	G protein-coupled receptor associated sorting protein family member 3	gene	DOID:12134	factor VIII deficiency		ISO	RGD:1347976	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Factor 8 deficiency, congenital	PMID:31690835
12051150	GPRASP3	G protein-coupled receptor associated sorting protein family member 3	gene	DOID:12849	autistic disorder		ISO	RGD:1347976	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
12051160	PIM1	Pim-1 proto-oncogene, serine/threonine kinase	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:737516	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26297436
12051160	PIM1	Pim-1 proto-oncogene, serine/threonine kinase	gene	DOID:0080600	COVID-19		ISO	RGD:737516	D	RGD:9068941	20200709	RGD		mRNA:decreased expression:CD4+ T cells (human)	PMID:32377375|REF_RGD_ID:32716422
12051160	PIM1	Pim-1 proto-oncogene, serine/threonine kinase	gene	DOID:11400	pyelonephritis		ISO	RGD:737516	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23565217
12051160	PIM1	Pim-1 proto-oncogene, serine/threonine kinase	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:737516	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16033404
12051160	PIM1	Pim-1 proto-oncogene, serine/threonine kinase	gene	DOID:3068	glioblastoma		ISO	RGD:737516	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23724780
12051160	PIM1	Pim-1 proto-oncogene, serine/threonine kinase	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:737516	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25812446
12051160	PIM1	Pim-1 proto-oncogene, serine/threonine kinase	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:737516	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23565217
12051160	PIM1	Pim-1 proto-oncogene, serine/threonine kinase	gene	DOID:9006205	Animal Disease Models		ISO	RGD:737516	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25812446
12051160	PIM1	Pim-1 proto-oncogene, serine/threonine kinase	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:737516	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23565217
12051160	PIM1	Pim-1 proto-oncogene, serine/threonine kinase	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:737516	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16298037
12051169	ADGRL3	adhesion G protein-coupled receptor L3	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1353351	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22405201
12051169	ADGRL3	adhesion G protein-coupled receptor L3	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1553247	D	RGD:9068941	20220825	MouseDO		OMIM:143465 | OMIM:608903 | OMIM:608904 | OMIM:608905 | OMIM:608906 | OMIM:612311 | OMIM:612312 | OMIM:613003	
12051169	ADGRL3	adhesion G protein-coupled receptor L3	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:620836	D	RGD:9068941	20200609	RGD			PMID:12225880|REF_RGD_ID:2314400
12051169	ADGRL3	adhesion G protein-coupled receptor L3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1353351	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12051227	CPA4	carboxypeptidase A4	gene	DOID:4852	pleomorphic xanthoastrocytoma		ISO	RGD:1345742	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma	PMID:28299358
12051243	GCC1	GRIP and coiled-coil domain containing 1	gene	DOID:4852	pleomorphic xanthoastrocytoma		ISO	RGD:1352654	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma	PMID:28299358
12051243	GCC1	GRIP and coiled-coil domain containing 1	gene	DOID:5062	phencyclidine abuse		ISO	RGD:1352654	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17205118
12051243	GCC1	GRIP and coiled-coil domain containing 1	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1352654	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17205118
12051243	GCC1	GRIP and coiled-coil domain containing 1	gene	DOID:9505	cannabis abuse		ISO	RGD:1352654	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17205118
12051249	CRLF1	cytokine receptor like factor 1	gene	DOID:0060294	cold-induced sweating syndrome		ISO	RGD:1322794	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Cold-induced sweating syndrome | ClinVar Annotator: match by term: Muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death	PMID:17436251|PMID:17436252|PMID:19012339|PMID:20186812|PMID:21370513|PMID:24008591|PMID:24073352|PMID:24488861|PMID:25326637|PMID:25741868|PMID:27976805|PMID:28492532|PMID:31497877
12051249	CRLF1	cytokine receptor like factor 1	gene	DOID:0080329	cold-induced sweating syndrome 1		ISO	RGD:1322794	D	RGD:7240710	20180307	OMIM			
12051249	CRLF1	cytokine receptor like factor 1	gene	DOID:0080329	cold-induced sweating syndrome 1		ISO	RGD:1322794	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: CRLF1-related condition | ClinVar Annotator: match by term: Cold-induced sweating syndrome 1	PMID:12509788|PMID:17436251|PMID:17436252|PMID:19012339|PMID:20186812|PMID:20400119|PMID:21326283|PMID:21370513|PMID:24008591|PMID:24073352|PMID:24488861|PMID:25326637|PMID:25741868|PMID:26752647|PMID:27976805|PMID:28492532|PMID:31497877|PMID:35699517|PMID:8723066
12051249	CRLF1	cytokine receptor like factor 1	gene	DOID:0111019	cone-rod dystrophy 12		ISO	RGD:1322794	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy 12	PMID:25741868|PMID:31497877
12051249	CRLF1	cytokine receptor like factor 1	gene	DOID:630	genetic disease		ISO	RGD:1322794	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17436251|PMID:17436252|PMID:19012339|PMID:21370513|PMID:24008591|PMID:24073352|PMID:24488861|PMID:25326637|PMID:25741868|PMID:27976805|PMID:28492532|PMID:31497877
12051249	CRLF1	cytokine receptor like factor 1	gene	DOID:9007653	Multiple Abnormalities	susceptibility	ISO	RGD:1322794	D	RGD:9068941	20200609	RGD		Cold-induced sweating syndrome-1, OMIM:272430	PMID:12509788|REF_RGD_ID:1600970
12051249	CRLF1	cytokine receptor like factor 1	gene	DOID:9009086	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1		ISO	RGD:1322794	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	PMID:28492532
12051260	PRND	prion like protein doppel	gene	DOID:0090103	Huntington's disease-like 1		ISO	RGD:1315338	D	RGD:8554872	20230314	ClinVar		ClinVar Annotator: match by term: Huntington disease-like 1	PMID:28492532
12051260	PRND	prion like protein doppel	gene	DOID:3981	pantothenate kinase-associated neurodegeneration		ISO	RGD:1315338	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Pigmentary pallidal degeneration	PMID:28492532
12051260	PRND	prion like protein doppel	gene	DOID:9004174	Inosine Triphosphatase Deficiency		ISO	RGD:1315338	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Inosine triphosphatase deficiency	PMID:26224535|PMID:28492532|PMID:34989426
12051266	RBCK1	RANBP2-type and C3HC4-type zinc finger containing 1	gene	DOID:0080785	Brown-Vialetto-Van Laere syndrome 1		ISO	RGD:731853	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 1	PMID:20206331|PMID:22824638|PMID:24239381|PMID:25462087|PMID:28492532
12051266	RBCK1	RANBP2-type and C3HC4-type zinc finger containing 1	gene	DOID:2750	glycogen storage disease IV		ISO	RGD:731853	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Glycogen storage disease, type IV	
12051266	RBCK1	RANBP2-type and C3HC4-type zinc finger containing 1	gene	DOID:630	genetic disease		ISO	RGD:731853	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:33413275
12051266	RBCK1	RANBP2-type and C3HC4-type zinc finger containing 1	gene	DOID:9003936	Cardiomegaly		ISO	RGD:731853	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17121852
12051266	RBCK1	RANBP2-type and C3HC4-type zinc finger containing 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:731853	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12051266	RBCK1	RANBP2-type and C3HC4-type zinc finger containing 1	gene	DOID:9007616	Polyglucosan Body Myopathy 1 with or without Immunodeficiency		ISO	RGD:731853	D	RGD:7240710	20180130	OMIM			
12051266	RBCK1	RANBP2-type and C3HC4-type zinc finger containing 1	gene	DOID:9007616	Polyglucosan Body Myopathy 1 with or without Immunodeficiency		ISO	RGD:731853	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: POLYGLUCOSAN BODY MYOPATHY WITHOUT IMMUNODEFICIENCY | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with immunodeficiency | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 with or without immunodeficiency | ClinVar Annotator: match by term: Polyglucosan body myopathy 1 without immunodeficiency	PMID:16199547|PMID:17576681|PMID:18691923|PMID:23104095|PMID:2379848|PMID:23798481|PMID:23889995|PMID:24033266|PMID:25741868|PMID:28492532|PMID:29260357|PMID:31127727|PMID:31407473|PMID:32187699|PMID:33413275|PMID:9536098
12051283	HSD17B2	hydroxysteroid 17-beta dehydrogenase 2	gene	DOID:289	endometriosis		ISO	RGD:1353008	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18815356|PMID:21232532
12051283	HSD17B2	hydroxysteroid 17-beta dehydrogenase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1353008	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980|PMID:25380136
12051283	HSD17B2	hydroxysteroid 17-beta dehydrogenase 2	gene	DOID:9007715	Endometrial Neoplasms		ISO	RGD:1353008	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23200943
12051301	PIPOX	pipecolic acid and sarcosine oxidase	gene	DOID:906	peroxisomal disease		ISO	RGD:1322755	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10642506
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:0050469	Costello syndrome		ISO	RGD:1354502	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Costello syndrome	PMID:28492532
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:1354502	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy	PMID:28492532
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:0050729	Chanarin-Dorfman syndrome		ISO	RGD:1354502	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Neutral lipid storage myopathy | ClinVar Annotator: match by term: Triglyceride storage disease with ichthyosis	PMID:16199547|PMID:16644682|PMID:17187067|PMID:17576681|PMID:18445597|PMID:19763152|PMID:20307669|PMID:20370797|PMID:21073837|PMID:21170305|PMID:21544567|PMID:22406018|PMID:22832386|PMID:22990388|PMID:23232698|PMID:23449549|PMID:25287355|PMID:25363365|PMID:25741868|PMID:26922712|PMID:27869069|PMID:28391974|PMID:28492532|PMID:28499397|PMID:30738494|PMID:31525260|PMID:32041611|PMID:33569515|PMID:35460704|PMID:9536098
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:0080773	delta beta-thalassemia		ISO	RGD:1354502	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta	PMID:2798417
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:0111969	immunodeficiency 39		ISO	RGD:1354502	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 39	PMID:28492532
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:1354502	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:28492532
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:114	heart disease		ISO	RGD:1354502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21585347|PMID:23867907
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:1354502	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21411543
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:12932	endomyocardial fibrosis		ISO	RGD:1354502	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:35218467
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1354502	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	PMID:28492532
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:423	myopathy		ISO	RGD:1354502	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Myopathy	
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:5572	Beckwith-Wiedemann syndrome		ISO	RGD:1354502	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Beckwith-Wiedemann syndrome	PMID:21910219|PMID:25427884|PMID:28492532
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:6000	congestive heart failure		ISO	RGD:1354502	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:35218467
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:630	genetic disease		ISO	RGD:1354502	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:17187067|PMID:21073837|PMID:21544567|PMID:25363365|PMID:25741868|PMID:28492532|PMID:33569515
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:9001747	Ventricular Dysfunction, Left		ISO	RGD:1354502	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:35218467
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:9004035	Segawa Syndrome, Autosomal Recessive		ISO	RGD:1354502	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autosomal recessive DOPA responsive dystonia	PMID:28492532
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:9004438	Neutral Lipid Storage Disease with Myopathy		ISO	RGD:1354502	D	RGD:7240710	20180130	OMIM			
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:9004438	Neutral Lipid Storage Disease with Myopathy		ISO	RGD:1354502	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Neutral lipid storage disease without ichthyosis	PMID:21170305|PMID:25741868|PMID:28492532|PMID:35460704
12051324	PNPLA2	patatin like phospholipase domain containing 2	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:1354502	D	RGD:9068941	20220908	CTD		CTD Direct Evidence: marker/mechanism	PMID:35218467
12051339	DPH5	diphthamide biosynthesis 5	gene	DOID:0070479	neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties		ISO	RGD:1602122	D	RGD:7240710	20221109	OMIM			
12051339	DPH5	diphthamide biosynthesis 5	gene	DOID:0070479	neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties		ISO	RGD:1602122	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties	PMID:25741868|PMID:35482014
12051339	DPH5	diphthamide biosynthesis 5	gene	DOID:9269	maple syrup urine disease		ISO	RGD:1602122	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Maple syrup urine disease	PMID:28492532
12051364	LOC100686073	metallothionein-1	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:1349525	D	RGD:8554872	20230314	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy	PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059
12051364	LOC100686073	metallothionein-1	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:10922	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24163136
12051364	LOC100686073	metallothionein-1	gene	DOID:0060496	respiratory allergy		ISO	RGD:10922	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17085522
12051364	LOC100686073	metallothionein-1	gene	DOID:0080600	COVID-19		ISO	RGD:1349525	D	RGD:9068941	20200709	RGD		mRNA:decreased expression:CD14 monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
12051364	LOC100686073	metallothionein-1	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:1349525	D	RGD:8554872	20230314	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059
12051364	LOC100686073	metallothionein-1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:10922	D	RGD:9068941	20200609	RGD			PMID:22766972|REF_RGD_ID:10412319
12051364	LOC100686073	metallothionein-1	gene	DOID:11573	listeriosis		ISO	RGD:10922	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19576872
12051364	LOC100686073	metallothionein-1	gene	DOID:1561	cognitive disorder		ISO	RGD:10922	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18226494
12051364	LOC100686073	metallothionein-1	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:10922	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16543248
12051364	LOC100686073	metallothionein-1	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1349525	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059
12051364	LOC100686073	metallothionein-1	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:10922	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord (mouse)	PMID:16179515|REF_RGD_ID:6484130
12051364	LOC100686073	metallothionein-1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:10922	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16543248
12051364	LOC100686073	metallothionein-1	gene	DOID:480	movement disease		ISO	RGD:10922	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16216453
12051364	LOC100686073	metallothionein-1	gene	DOID:767	muscular atrophy		ISO	RGD:10922	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24163136
12051364	LOC100686073	metallothionein-1	gene	DOID:8466	retinal degeneration		ISO	RGD:10922	D	RGD:9068941	20200609	RGD		mRNA:increased expression:retina	PMID:23132798|REF_RGD_ID:10412646
12051364	LOC100686073	metallothionein-1	gene	DOID:8927	learning disability		ISO	RGD:10922	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16216453
12051364	LOC100686073	metallothionein-1	gene	DOID:9001981	Weight Loss		ISO	RGD:10922	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24163136
12051364	LOC100686073	metallothionein-1	gene	DOID:9002644	Premature Aging		ISO	RGD:10922	D	RGD:9068941	20200609	RGD			PMID:18410310|REF_RGD_ID:10412323
12051364	LOC100686073	metallothionein-1	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:10922	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain (mouse)	PMID:19619133|REF_RGD_ID:6484112
12051364	LOC100686073	metallothionein-1	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:10922	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11835189
12051364	LOC100686073	metallothionein-1	gene	DOID:9004484	Sepsis		ISO	RGD:10922	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17374846
12051364	LOC100686073	metallothionein-1	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:10922	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16166738
12051364	LOC100686073	metallothionein-1	gene	DOID:9004634	Cardiac Output, Low		ISO	RGD:10922	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30096613
12051364	LOC100686073	metallothionein-1	gene	DOID:9005873	Tongue Neoplasms		ISO	RGD:10922	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16543248
12051364	LOC100686073	metallothionein-1	gene	DOID:9007023	Prenatal Injuries		ISO	RGD:10922	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12514265
12051364	LOC100686073	metallothionein-1	gene	DOID:9007480	Hyperoxia		ISO	RGD:10922	D	RGD:9068941	20200609	RGD		mRNA:increased expression:lung (mouse)	PMID:8110467|REF_RGD_ID:6484136
12051364	LOC100686073	metallothionein-1	gene	DOID:9008870	Chromosome 16q12 Duplication Syndrome		ISO	RGD:1349525	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome	PMID:25741868
12051377	LOC100688796	ATP synthase F(0) complex subunit B1, mitochondrial	gene	DOID:0080600	COVID-19		ISO	RGD:736319	D	RGD:9068941	20210122	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12051377	LOC100688796	ATP synthase F(0) complex subunit B1, mitochondrial	gene	DOID:2513	basal cell carcinoma		ISO	RGD:736319	D	RGD:9068941	20240704	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
12051377	LOC100688796	ATP synthase F(0) complex subunit B1, mitochondrial	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:736319	D	RGD:9068941	20210122	RGD			PMID:28672194|REF_RGD_ID:14696810
12051377	LOC100688796	ATP synthase F(0) complex subunit B1, mitochondrial	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736319	D	RGD:9068941	20210122	RGD		associated with hepatitis C	PMID:18932288|REF_RGD_ID:14696822
12051418	WNT8A	Wnt family member 8A	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1314861	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22544366
12051418	WNT8A	Wnt family member 8A	gene	DOID:0070061	autosomal dominant intellectual developmental disorder 31		ISO	RGD:1314861	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	PMID:28492532
12051418	WNT8A	Wnt family member 8A	gene	DOID:0080409	familial adenomatous polyposis 1		ISO	RGD:1314861	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Familial adenomatous polyposis 1	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
12051418	WNT8A	Wnt family member 8A	gene	DOID:0111457	STING-associated vasculopathy with onset in infancy		ISO	RGD:1314861	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy	PMID:28492532
12051418	WNT8A	Wnt family member 8A	gene	DOID:10892	hypospadias		ISO	RGD:1314861	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypospadias	PMID:25741868
12051418	WNT8A	Wnt family member 8A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1314861	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12051418	WNT8A	Wnt family member 8A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1314861	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome	PMID:18487285|PMID:19279422|PMID:21643010|PMID:28492532
12051418	WNT8A	Wnt family member 8A	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1314861	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
12051436	ZNF408	zinc finger protein 408	gene	DOID:0050535	exudative vitreoretinopathy		ISO	RGD:1315189	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Familial exudative vitreoretinopathy	
12051436	ZNF408	zinc finger protein 408	gene	DOID:0070255	congenital disorder of glycosylation type IIc		ISO	RGD:1315189	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Rambam Hasharon syndrome	PMID:16455955|PMID:24403049|PMID:28492532
12051436	ZNF408	zinc finger protein 408	gene	DOID:0110395	retinitis pigmentosa 72		ISO	RGD:1315189	D	RGD:7240710	20180130	OMIM			
12051436	ZNF408	zinc finger protein 408	gene	DOID:0110395	retinitis pigmentosa 72		ISO	RGD:1315189	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 72	PMID:25741868|PMID:25882705|PMID:28492532|PMID:3196484
12051436	ZNF408	zinc finger protein 408	gene	DOID:0111410	exudative vitreoretinopathy 6		ISO	RGD:1315189	D	RGD:7240710	20180130	OMIM			
12051436	ZNF408	zinc finger protein 408	gene	DOID:0111410	exudative vitreoretinopathy 6		ISO	RGD:1315189	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Exudative vitreoretinopathy 6 | ClinVar Annotator: match by term: ZNF408-related condition	PMID:23716654|PMID:25741868|PMID:25882705|PMID:26167114|PMID:28492532|PMID:28559085|PMID:29982478|PMID:3196484|PMID:33247286|PMID:6897033
12051436	ZNF408	zinc finger protein 408	gene	DOID:0111412	exudative vitreoretinopathy 1		ISO	RGD:1315189	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Exudative vitreoretinopathy 1	PMID:23716654|PMID:25741868|PMID:27316669|PMID:28492532
12051436	ZNF408	zinc finger protein 408	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1315189	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autosomal recessive retinitis pigmentosa	PMID:28095122
12051436	ZNF408	zinc finger protein 408	gene	DOID:1059	intellectual disability		ISO	RGD:1315189	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12051436	ZNF408	zinc finger protein 408	gene	DOID:5723	optic atrophy		ISO	RGD:1315189	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
12051436	ZNF408	zinc finger protein 408	gene	DOID:630	genetic disease		ISO	RGD:1315189	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12051436	ZNF408	zinc finger protein 408	gene	DOID:8501	fundus dystrophy		ISO	RGD:1315189	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:23716654|PMID:25741868|PMID:25882705|PMID:26167114|PMID:27316669|PMID:28492532|PMID:28559085|PMID:29721947|PMID:29982478|PMID:30097784|PMID:3196484|PMID:33247286|PMID:6897033
12051436	ZNF408	zinc finger protein 408	gene	DOID:9007075	Congenital Prothrombin Deficiency		ISO	RGD:1315189	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Congenital prothrombin deficiency	PMID:28492532
12051493	GNGT1	G protein subunit gamma transducin 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1351801	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12051493	GNGT1	G protein subunit gamma transducin 1	gene	DOID:10283	prostate cancer		ISO	RGD:1351801	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	PMID:23265383
12051493	GNGT1	G protein subunit gamma transducin 1	gene	DOID:4852	pleomorphic xanthoastrocytoma		ISO	RGD:1351801	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma	PMID:28299358
12051505	ACKR3	atypical chemokine receptor 3	gene	DOID:1059	intellectual disability		ISO	RGD:1343702	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12051505	ACKR3	atypical chemokine receptor 3	gene	DOID:2378	relapsing-remitting multiple sclerosis		ISO	RGD:1343702	D	RGD:9068941	20220512	CTD		CTD Direct Evidence: marker/mechanism	PMID:34624384
12051505	ACKR3	atypical chemokine receptor 3	gene	DOID:2600	laryngeal carcinoma	disease_progression	ISO	RGD:1343702	D	RGD:9068941	20220506	RGD		protein:increased expression:larynx (human)	PMID:16494043|REF_RGD_ID:152025548
12051505	ACKR3	atypical chemokine receptor 3	gene	DOID:305	carcinoma		ISO	RGD:1343702	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22180778
12051505	ACKR3	atypical chemokine receptor 3	gene	DOID:4467	clear cell renal cell carcinoma		ISO	RGD:1343702	D	RGD:9068941	20230128	RGD		mRNA:increased expression:kidney:	PMID:29218250|REF_RGD_ID:155804290
12051505	ACKR3	atypical chemokine receptor 3	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1343702	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
12051505	ACKR3	atypical chemokine receptor 3	gene	DOID:557	kidney disease		ISO	RGD:1343702	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22880115
12051505	ACKR3	atypical chemokine receptor 3	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1343702	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19192274
12051505	ACKR3	atypical chemokine receptor 3	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1343702	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22180778
12051505	ACKR3	atypical chemokine receptor 3	gene	DOID:9001550	Bethlem Myopathy 1A		ISO	RGD:1343702	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Bethlem myopathy 1A	PMID:26004199|PMID:28492532
12051505	ACKR3	atypical chemokine receptor 3	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1343702	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12051505	ACKR3	atypical chemokine receptor 3	gene	DOID:9002297	OCULOMOTOR-ABDUCENS SYNKINESIS		ISO	RGD:1343702	D	RGD:7240710	20210414	OMIM			
12051505	ACKR3	atypical chemokine receptor 3	gene	DOID:9002297	OCULOMOTOR-ABDUCENS SYNKINESIS		ISO	RGD:1343702	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Oculomotor-abducens synkinesis	PMID:31211835
12051505	ACKR3	atypical chemokine receptor 3	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1343702	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22180778
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1601873	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:0080006	bone development disease		ISO	RGD:1601873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25730767
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:0080409	familial adenomatous polyposis 1		ISO	RGD:1601873	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Familial adenomatous polyposis 1	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1601873	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:1561	cognitive disorder		ISO	RGD:1601873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25730767
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:1682	congenital heart disease		ISO	RGD:1601873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25730767
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:630	genetic disease		ISO	RGD:1601873	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25730767|PMID:25741868|PMID:28492532|PMID:31058441
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:850	lung disease		ISO	RGD:1601873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25730767
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:8923	skin melanoma	disease_progression	ISO	RGD:1601873	D	RGD:9068941	20221028	RGD			PMID:33417923|REF_RGD_ID:155631266
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:9001487	Facies		ISO	RGD:1601873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25730767
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1601873	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:9004610	Acute Lung Injury	treatment	ISO	RGD:1311694	D	RGD:9068941	20221028	RGD			PMID:31466050|REF_RGD_ID:155631268
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:9006257	Growth Disorders		ISO	RGD:1601873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25730767
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:9006799	CHOPS Syndrome		ISO	RGD:1601873	D	RGD:7240710	20180130	OMIM			
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:9006799	CHOPS Syndrome		ISO	RGD:1601873	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: AFF4-related condition | ClinVar Annotator: match by term: Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	PMID:17576681|PMID:25730767|PMID:25741868|PMID:28492532|PMID:29758562|PMID:31058441|PMID:34782754|PMID:9536098
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1601873	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:1601873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25730767
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:9256	colorectal cancer	disease_progression	ISO	RGD:1601873	D	RGD:9068941	20221028	RGD			PMID:35223479|REF_RGD_ID:155631267
12051524	AFF4	ALF transcription elongation factor 4	gene	DOID:9970	obesity		ISO	RGD:1601873	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25730767
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1342489	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:23160955|PMID:25741868|PMID:28492532|PMID:30504930
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:0060261	congenital ptosis		ISO	RGD:1342489	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital ptosis	PMID:25741868|PMID:32267004
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:0111016	cone-rod dystrophy 13		ISO	RGD:1342489	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy 13	PMID:11528500|PMID:23105016|PMID:28492532
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:1059	intellectual disability		ISO	RGD:1342489	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:12849	autistic disorder		ISO	RGD:1342489	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: CHD8-related disorder	PMID:23160955|PMID:24998929|PMID:25741868|PMID:26789910|PMID:28492532|PMID:28600779|PMID:30564305|PMID:31130284|PMID:31721432|PMID:32309624|PMID:32951261|PMID:33004838|PMID:33352116|PMID:34088660
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:2030	anxiety disorder		ISO	RGD:1342489	D	RGD:9068941	20230907	CTD		CTD Direct Evidence: marker/mechanism	PMID:35365720
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:5813	purine nucleoside phosphorylase deficiency		ISO	RGD:1342489	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency	PMID:24767876|PMID:28492532
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:630	genetic disease		ISO	RGD:1342489	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:18378692|PMID:21447119|PMID:22083958|PMID:22495306|PMID:23160955|PMID:23835524|PMID:24267886|PMID:24998929|PMID:25741868|PMID:26789910|PMID:27824329|PMID:27959697|PMID:28475857|PMID:28492532|PMID:28600779|PMID:31130284|PMID:31311581|PMID:31721432|PMID:32309624|PMID:32801363|PMID:32951261|PMID:33004838|PMID:33352116|PMID:9536098
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:77	gastrointestinal system disease		ISO	RGD:1342489	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24998929
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9000443	Intellectual Developmental Disorder with Autism and Macrocephaly		ISO	RGD:1342489	D	RGD:7240710	20220518	OMIM			
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9000443	Intellectual Developmental Disorder with Autism and Macrocephaly		ISO	RGD:1342489	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder with autism and macrocephaly	PMID:18414213|PMID:22495309|PMID:23160955|PMID:24998929|PMID:25326635|PMID:25326637|PMID:25363760|PMID:25741868|PMID:25741869|PMID:26789910|PMID:27824329|PMID:27959697|PMID:28191890|PMID:28492532|PMID:28600779|PMID:28714951|PMID:29389947|PMID:30504930|PMID:30564305|PMID:30670789|PMID:31001818|PMID:31130284|PMID:31721432|PMID:31980904|PMID:31981491|PMID:32309624|PMID:34088660|PMID:34906502|PMID:35904974
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9001487	Facies		ISO	RGD:1342489	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30670789
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9003816	Macrocephaly		ISO	RGD:1342489	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Macrocephaly	PMID:25741868|PMID:32267004
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1342489	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:23160955|PMID:24998929|PMID:25741868|PMID:26789910|PMID:28492532|PMID:31001818|PMID:34088660
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9004758	Brain-Lung-Thyroid Syndrome		ISO	RGD:1342489	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Brain-lung-thyroid syndrome	PMID:25741868
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1342489	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
12051550	CHD8	chromodomain helicase DNA binding protein 8	gene	DOID:9008582	Developmental Disease		ISO	RGD:1342489	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:25741868
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:0050696	fetal alcohol spectrum disorder	sexual_dimorphism	ISO	RGD:3094	D	RGD:9068941	20240215	RGD		associated with chronic mild stress, age effect; mRNA:altered expression:hippocampus (rat)	PMID:29251811|REF_RGD_ID:401965484
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:0050741	alcohol dependence		ISO	RGD:3094	D	RGD:9068941	20240201	RGD		mRNA:altered expression:central amygdaloid nucleus (rat)	PMID:28461696|REF_RGD_ID:401960064
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:733363	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:30763456|PMID:9662404
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:0060742	methylmalonic acidemia cblA type		ISO	RGD:733363	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Methylmalonic aciduria, cblA type	PMID:15523652|PMID:15781192|PMID:28492532
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:0060855	autosomal dominant pseudohypoaldosteronism type 1		ISO	RGD:733363	D	RGD:7240710	20180307	OMIM			
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:0060855	autosomal dominant pseudohypoaldosteronism type 1		ISO	RGD:733363	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Autosomal dominant pseudohypoaldosteronism type 1 | ClinVar Annotator: match by term: Pseudohypoaldosteronism, Type I, Dominant	PMID:11134129|PMID:11344206|PMID:12483305|PMID:12679457|PMID:12788847|PMID:14715854|PMID:15126534|PMID:16611713|PMID:16757525|PMID:16954160|PMID:19571553|PMID:20030467|PMID:22463955|PMID:24033266|PMID:24088041|PMID:25251996|PMID:25741868|PMID:26467025|PMID:27780983|PMID:28348114|PMID:28492532|PMID:28804203|PMID:30763456|PMID:31690835|PMID:32064789|PMID:9662404
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:11612	polycystic ovary syndrome	treatment	ISO	RGD:3094	D	RGD:9068941	20240222	RGD			PMID:31925474|REF_RGD_ID:401976287
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:12849	autistic disorder		ISO	RGD:733363	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:733363	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21321305
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:1574	alcohol use disorder		ISO	RGD:3094	D	RGD:9068941	20240215	RGD			PMID:33007359|REF_RGD_ID:401966865
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:1574	alcohol use disorder	sexual_dimorphism	ISO	RGD:3094	D	RGD:9068941	20240222	RGD			PMID:30171933|REF_RGD_ID:401976281
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:1574	alcohol use disorder	treatment	ISO	RGD:3094	D	RGD:9068941	20240208	RGD			PMID:29437012|REF_RGD_ID:401965466
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:2560	morphine dependence	treatment	ISO	RGD:3094	D	RGD:9068941	20240208	RGD			PMID:22304485|REF_RGD_ID:401965468
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:2661	myoepithelioma		ISO	RGD:733363	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:289	endometriosis		ISO	RGD:733363	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22138541
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:4479	pseudohypoaldosteronism		ISO	RGD:733363	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pseudohypoaldosteronism	
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:5844	myocardial infarction		ISO	RGD:733363	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16413583|PMID:17587755
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:6000	congestive heart failure		ISO	RGD:733363	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15722665|PMID:21321305
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:630	genetic disease		ISO	RGD:733363	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16972228|PMID:28492532
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:9001131	stress-related disorder		ISO	RGD:3094	D	RGD:9068941	20240222	RGD		associated with prenatal alcohol exposure; mRNA:increased expression:hippocampus (rat)	PMID:23579081|REF_RGD_ID:401976414
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:9001131	stress-related disorder	sexual_dimorphism	ISO	RGD:3094	D	RGD:9068941	20240215	RGD		associated with prenatal exposure delayed effects; mRNA:altered expression: hippocampus (rat)	PMID:29251811|REF_RGD_ID:401965484
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:9001131	stress-related disorder	sexual_dimorphism	ISO	RGD:3094	D	RGD:9068941	20240222	RGD		associated with caloric restriction, males; mRNA:increased expression:hippocampus (rat)	PMID:23579081|REF_RGD_ID:401976414
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:9001131	stress-related disorder	sexual_dimorphism	ISO	RGD:3094	D	RGD:9068941	20240222	RGD		mRNA:altered expr:brain (rat)	PMID:29990678|REF_RGD_ID:401976282
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:9001131	stress-related disorder	sexual_dimorphism	ISO	RGD:3094	D	RGD:9068941	20240222	RGD		protein:altered expression:hippocampus (rat)	PMID:10399770|REF_RGD_ID:401976290
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:9001234	Prenatal Exposure Delayed Effects		ISO	RGD:3094	D	RGD:9068941	20240222	RGD		associated with stress-related disorder; mRNA:decreased expression:hippocampus (rat)	PMID:16925589|REF_RGD_ID:401976289
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:9001234	Prenatal Exposure Delayed Effects	sexual_dimorphism	ISO	RGD:3094	D	RGD:9068941	20240210	RGD		mRNA:altered expression:hippocampus|hypothalamus (rat)	PMID:26180184|REF_RGD_ID:11074449
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:9001234	Prenatal Exposure Delayed Effects	sexual_dimorphism	ISO	RGD:3094	D	RGD:9068941	20240215	RGD		associated with chronic stress, female fetus; protein:increased expression:hippocampus, amygdala (rat)	PMID:26342748|REF_RGD_ID:401965481
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:9001234	Prenatal Exposure Delayed Effects	sexual_dimorphism	ISO	RGD:3094	D	RGD:9068941	20240222	RGD		associated with females; mRNA:decreased expression:hippocampus (rat)	PMID:23579081|REF_RGD_ID:401976414
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:9001234	Prenatal Exposure Delayed Effects	sexual_dimorphism	ISO	RGD:3094	D	RGD:9068941	20240222	RGD		mRNA:altered expr:brain (rat)	PMID:29990678|REF_RGD_ID:401976282
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:9001747	Ventricular Dysfunction, Left		ISO	RGD:733363	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21321305
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:9002298	Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy		ISO	RGD:733363	D	RGD:7240710	20180130	OMIM			
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:9002298	Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy		ISO	RGD:733363	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy | ClinVar Annotator: match by term: NR3C2-related condition	PMID:10884226|PMID:15126534|PMID:16757525|PMID:16972228|PMID:19571553|PMID:22463955|PMID:25741868|PMID:27780983|PMID:28492532|PMID:32064789
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:9004616	Left Ventricular Hypertrophy	treatment	ISO	RGD:3094	D	RGD:9068941	20240208	RGD		associated with morphine dependence	PMID:22304485|REF_RGD_ID:401965468
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:9005111	morphine withdrawal syndrome	treatment	ISO	RGD:3094	D	RGD:9068941	20240208	RGD			PMID:25308750|REF_RGD_ID:401965469
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:9452	steatotic liver disease	treatment	ISO	RGD:3094	D	RGD:9068941	20240201	RGD			PMID:30298849|REF_RGD_ID:401960083
12051610	NR3C2	nuclear receptor subfamily 3 group C member 2	gene	DOID:9970	obesity	treatment	ISO	RGD:3094	D	RGD:9068941	20240201	RGD			PMID:30298849|REF_RGD_ID:401960083
12051610	Nr3c2	nuclear receptor subfamily 3, group C, member 2	gene	DOID:9006358	Postoperative Cognitive Dysfunction		ISO	RGD:3094	D	RGD:9068941	20240208	RGD		protein:increased expression:hippocampus (rat)	PMID:33390808|REF_RGD_ID:401965467
12051629	CSDE1	cold shock domain containing E1	gene	DOID:0080690	RASopathy		ISO	RGD:1607084	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: RASopathy	PMID:28492532
12051629	CSDE1	cold shock domain containing E1	gene	DOID:0110799	hereditary spastic paraplegia 47		ISO	RGD:1607084	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 47	PMID:22290197|PMID:24700674|PMID:24781758|PMID:28492532
12051629	CSDE1	cold shock domain containing E1	gene	DOID:630	genetic disease		ISO	RGD:1607084	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12051657	MADD	MAP kinase activating death domain	gene	DOID:0060358	multiple acyl-CoA dehydrogenase deficiency		ISO	RGD:732838	D	RGD:8554872	20221213	ClinVar		ClinVar Annotator: match by term: Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type	PMID:25741868|PMID:32761064
12051657	MADD	MAP kinase activating death domain	gene	DOID:0070255	congenital disorder of glycosylation type IIc		ISO	RGD:732838	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Rambam Hasharon syndrome	PMID:16455955|PMID:24403049|PMID:28492532
12051657	MADD	MAP kinase activating death domain	gene	DOID:0110310	hypertrophic cardiomyopathy 4		ISO	RGD:732838	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 4	
12051657	MADD	MAP kinase activating death domain	gene	DOID:0111377	fetal akinesia deformation sequence syndrome 1		ISO	RGD:732838	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Fetal akinesia deformation sequence 1	PMID:17686188|PMID:28492532
12051657	MADD	MAP kinase activating death domain	gene	DOID:1059	intellectual disability		ISO	RGD:732838	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12051657	MADD	MAP kinase activating death domain	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:732838	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:28492532
12051657	MADD	MAP kinase activating death domain	gene	DOID:12849	autistic disorder		ISO	RGD:732838	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
12051657	MADD	MAP kinase activating death domain	gene	DOID:224	transient cerebral ischemia		ISO	RGD:619922	D	RGD:9068941	20200609	RGD			PMID:12625816|REF_RGD_ID:9588641
12051657	MADD	MAP kinase activating death domain	gene	DOID:630	genetic disease		ISO	RGD:732838	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28118382|PMID:36413997
12051657	MADD	MAP kinase activating death domain	gene	DOID:9003974	DEEAH Syndrome		ISO	RGD:732838	D	RGD:7240710	20201118	OMIM			
12051657	MADD	MAP kinase activating death domain	gene	DOID:9003974	DEEAH Syndrome		ISO	RGD:732838	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL DELAY WITH ENDOCRINE, EXOCRINE, AUTONOMIC, AND HEMATOLOGIC ABNORMALITIES | ClinVar Annotator: match by term: Deeah syndrome	PMID:25741868|PMID:28492532|PMID:32761064|PMID:36413997
12051657	MADD	MAP kinase activating death domain	gene	DOID:9004709	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA		ISO	RGD:732838	D	RGD:7240710	20201216	OMIM			
12051657	MADD	MAP kinase activating death domain	gene	DOID:9004709	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA		ISO	RGD:732838	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: MADD-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia	PMID:25741868|PMID:28492532|PMID:28940097|PMID:29302074|PMID:32761064
12051657	MADD	MAP kinase activating death domain	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:737590	D	RGD:9068941	20220825	MouseDO		OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036	
12051738	PGRMC2	progesterone receptor membrane component 2	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1318787	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1	
12051744	PCMT1	protein-L-isoaspartate (D-aspartate) O-methyltransferase	gene	DOID:0080016	spina bifida		ISO	RGD:733720	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16256389
12051744	PCMT1	protein-L-isoaspartate (D-aspartate) O-methyltransferase	gene	DOID:10652	Alzheimer's disease		ISO	RGD:733720	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cerebral cortex:	PMID:8736634|REF_RGD_ID:10448277
12051744	PCMT1	protein-L-isoaspartate (D-aspartate) O-methyltransferase	gene	DOID:3069	malignant astrocytoma		ISO	RGD:733720	D	RGD:9068941	20200609	RGD		protein:decreased expression,decreased activity:brain:	PMID:15857672|REF_RGD_ID:10448283
12051744	PCMT1	protein-L-isoaspartate (D-aspartate) O-methyltransferase	gene	DOID:3070	high grade glioma		ISO	RGD:3268	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:brain:	PMID:15857672|REF_RGD_ID:10448283
12051744	PCMT1	protein-L-isoaspartate (D-aspartate) O-methyltransferase	gene	DOID:6000	congestive heart failure		ISO	RGD:733721	D	RGD:9068941	20200609	RGD		protein:decreased expression:heart:	PMID:23647599|REF_RGD_ID:10448278
12051744	PCMT1	protein-L-isoaspartate (D-aspartate) O-methyltransferase	gene	DOID:9008752	Aortic Injuries		ISO	RGD:3268	D	RGD:9068941	20200609	RGD			PMID:9188065|REF_RGD_ID:10448925
12051759	ATG7	autophagy related 7	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1558502	D	RGD:9068941	20220825	MouseDO		OMIM:614286	
12051759	ATG7	autophagy related 7	gene	DOID:0060319	cardiac arrest	ameliorates	ISO	RGD:1304817	D	RGD:9068941	20240912	RGD			PMID:26071643|REF_RGD_ID:407532703
12051759	ATG7	autophagy related 7	gene	DOID:0070412	autosomal recessive spinocerebellar ataxia 31		ISO	RGD:1312481	D	RGD:7240710	20210728	OMIM			
12051759	ATG7	autophagy related 7	gene	DOID:0070412	autosomal recessive spinocerebellar ataxia 31		ISO	RGD:1312481	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: ATG7-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 31	PMID:25741868|PMID:28492532|PMID:34161705|PMID:35405176
12051759	ATG7	autophagy related 7	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	ameliorates	ISO	RGD:1558502	D	RGD:9068941	20240822	RGD			PMID:34303881|REF_RGD_ID:407445922
12051759	ATG7	autophagy related 7	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	exacerbates	ISO	RGD:1558502	D	RGD:9068941	20240822	RGD			PMID:31235522|REF_RGD_ID:407445921
12051759	ATG7	autophagy related 7	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1312481	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: NAFLD1	PMID:25741868|PMID:35405176
12051759	ATG7	autophagy related 7	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease	treatment	ISO	RGD:1304817	D	RGD:9068941	20240822	RGD			PMID:31787541|REF_RGD_ID:25823196
12051759	ATG7	autophagy related 7	gene	DOID:0080547	metabolic dysfunction-associated steatohepatitis	treatment	ISO	RGD:1304817	D	RGD:9068941	20240912	RGD			PMID:34052187|REF_RGD_ID:407532640
12051759	ATG7	autophagy related 7	gene	DOID:10763	hypertension		ISO	RGD:1304817	D	RGD:9068941	20200609	RGD		protein:increased expression:skeletal muscle	PMID:24119246|REF_RGD_ID:11557985
12051759	ATG7	autophagy related 7	gene	DOID:12351	alcoholic hepatitis		ISO	RGD:1558502	D	RGD:9068941	20240829	RGD		protein:increased expression:liver	PMID:31090940|REF_RGD_ID:407445926
12051759	ATG7	autophagy related 7	gene	DOID:12351	alcoholic hepatitis	treatment	ISO	RGD:1558502	D	RGD:9068941	20240912	RGD			PMID:36308627|REF_RGD_ID:407532639
12051759	ATG7	autophagy related 7	gene	DOID:1289	neurodegenerative disease		ISO	RGD:1304817	D	RGD:9068941	20200609	RGD			PMID:26208597|REF_RGD_ID:11557995
12051759	ATG7	autophagy related 7	gene	DOID:12935	alcoholic cardiomyopathy	treatment	ISO	RGD:1558502	D	RGD:9068941	20240912	RGD			PMID:29039471|REF_RGD_ID:407532638
12051759	ATG7	autophagy related 7	gene	DOID:14330	Parkinson's disease		ISO	RGD:1558502	D	RGD:9068941	20220825	MouseDO		OMIM:168600 | OMIM:300557 | OMIM:556500 | OMIM:602404 | OMIM:606852 | OMIM:607688 | OMIM:610297 | OMIM:613164 | OMIM:613643 | OMIM:614251	
12051759	ATG7	autophagy related 7	gene	DOID:2355	anemia		ISO	RGD:1312481	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26568842
12051759	ATG7	autophagy related 7	gene	DOID:3070	high grade glioma	treatment	ISO	RGD:1304817	D	RGD:9068941	20200609	RGD			PMID:25542083|REF_RGD_ID:11557994
12051759	ATG7	autophagy related 7	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1312481	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
12051759	ATG7	autophagy related 7	gene	DOID:5844	myocardial infarction		ISO	RGD:1304817	D	RGD:9068941	20200609	RGD		mRNA:increased expression:plantaris	PMID:24427319|REF_RGD_ID:11557988
12051759	ATG7	autophagy related 7	gene	DOID:607	paraplegia		ISO	RGD:1304817	D	RGD:9068941	20200609	RGD			PMID:23055316|REF_RGD_ID:11557990
12051759	ATG7	autophagy related 7	gene	DOID:614	lymphopenia		ISO	RGD:1312481	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26568842
12051759	ATG7	autophagy related 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1312481	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29191453
12051759	ATG7	autophagy related 7	gene	DOID:8466	retinal degeneration	exacerbates	ISO	RGD:1558502	D	RGD:9068941	20240829	RGD			PMID:23341467|REF_RGD_ID:407445924
12051759	ATG7	autophagy related 7	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1304817	D	RGD:9068941	20241024	RGD		associated with type 2 diabetes mellitus; protein:decreased, altered expression:retina	PMID:32272782|REF_RGD_ID:407571700
12051759	ATG7	autophagy related 7	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1558502	D	RGD:9068941	20241024	RGD		associated with type 1 diabetes mellitus;protein:decreased, altered expression:retina	PMID:32272782|REF_RGD_ID:407571700
12051759	ATG7	autophagy related 7	gene	DOID:90	degenerative disc disease	ameliorates	ISO	RGD:1304817	D	RGD:9068941	20240926	RGD			PMID:33372336|REF_RGD_ID:407571673
12051759	ATG7	autophagy related 7	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:1304817	D	RGD:9068941	20200609	RGD		protein:increased expression:axon	PMID:25040536|REF_RGD_ID:11553820
12051759	ATG7	autophagy related 7	gene	DOID:9001285	Alcoholic Liver Diseases		ISO	RGD:1558502	D	RGD:9068941	20240829	RGD		protein:increased expression:liver	PMID:31090940|REF_RGD_ID:407445926
12051759	ATG7	autophagy related 7	gene	DOID:9001981	Weight Loss		ISO	RGD:1312481	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26568842
12051759	ATG7	autophagy related 7	gene	DOID:9002159	Liver Reperfusion Injury	ameliorates	ISO	RGD:1558502	D	RGD:9068941	20230701	RGD			PMID:34400126|REF_RGD_ID:329902072
12051759	ATG7	autophagy related 7	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1312481	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28408137
12051759	ATG7	autophagy related 7	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1312481	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12051759	ATG7	autophagy related 7	gene	DOID:9005369	Hepatomegaly		ISO	RGD:1312481	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:26483381
12051759	ATG7	autophagy related 7	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1558502	D	RGD:9068941	20200609	RGD		protein:decreased expression:myocardium	PMID:24874076|REF_RGD_ID:11557993
12051759	ATG7	autophagy related 7	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:1304817	D	RGD:9068941	20200609	RGD			PMID:24993523|REF_RGD_ID:11557996
12051759	ATG7	autophagy related 7	gene	DOID:9005749	Necrosis		ISO	RGD:1312481	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21081844
12051759	ATG7	autophagy related 7	gene	DOID:9007874	Liver Failure		ISO	RGD:1312481	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:26483381
12051759	ATG7	autophagy related 7	gene	DOID:9008617	Lethargy		ISO	RGD:1312481	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26568842
12051759	ATG7	autophagy related 7	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1558502	D	RGD:9068941	20220825	MouseDO		OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420	
12051791	MAGI1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1322871	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
12051791	MAGI1	membrane associated guanylate kinase, WW and PDZ domain containing 1	gene	DOID:4928	intrahepatic cholangiocarcinoma	disease_progression	ISO	RGD:1322871	D	RGD:9068941	20220708	RGD		protein:increased expression:intrahepatic bile duct (human)	PMID:30377796|REF_RGD_ID:152998946
12051818	CA2	carbonic anhydrase 2	gene	DOID:0040091	autoimmune pancreatitis		ISO	RGD:737257	D	RGD:9068941	20241121	RGD			PMID:15831920|REF_RGD_ID:408425973
12051818	CA2	carbonic anhydrase 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:737257	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31209396
12051818	CA2	carbonic anhydrase 2	gene	DOID:0080199	colorectal carcinoma	disease_progression	ISO	RGD:737257	D	RGD:9068941	20220916	RGD			PMID:27688658|REF_RGD_ID:155226860
12051818	CA2	carbonic anhydrase 2	gene	DOID:0110941	autosomal recessive osteopetrosis 3		ISO	RGD:737257	D	RGD:7240710	20180130	OMIM			
12051818	CA2	carbonic anhydrase 2	gene	DOID:0110941	autosomal recessive osteopetrosis 3		ISO	RGD:737257	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: CA2-related condition | ClinVar Annotator: match by term: Osteopetrosis with renal tubular acidosis	PMID:12566520|PMID:1301935|PMID:15300855|PMID:1542674|PMID:18060825|PMID:1928091|PMID:25741868|PMID:28492532|PMID:4624444|PMID:5041390|PMID:7627193|PMID:8127074|PMID:8128957|PMID:8834238
12051818	CA2	carbonic anhydrase 2	gene	DOID:11476	osteoporosis		ISO	RGD:737257	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18924182
12051818	CA2	carbonic anhydrase 2	gene	DOID:12236	primary biliary cholangitis		ISO	RGD:737257	D	RGD:9068941	20241121	RGD			PMID:12806141|REF_RGD_ID:408425977
12051818	CA2	carbonic anhydrase 2	gene	DOID:12894	Sjogren's syndrome		ISO	RGD:737257	D	RGD:9068941	20241121	RGD			PMID:12806141|PMID:15831920|REF_RGD_ID:408425973|REF_RGD_ID:408425977
12051818	CA2	carbonic anhydrase 2	gene	DOID:13533	osteopetrosis		ISO	RGD:737257	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Osteopetrosis	PMID:1301935|PMID:25741868
12051818	CA2	carbonic anhydrase 2	gene	DOID:13533	osteopetrosis	susceptibility	ISO	RGD:737257	D	RGD:9068941	20200609	RGD		DNA:splice-site mutation	PMID:1301935|REF_RGD_ID:1600698
12051818	CA2	carbonic anhydrase 2	gene	DOID:1884	viral hepatitis		ISO	RGD:737257	D	RGD:9068941	20241121	RGD			PMID:12806141|REF_RGD_ID:408425977
12051818	CA2	carbonic anhydrase 2	gene	DOID:299	adenocarcinoma		ISO	RGD:737257	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15378696
12051818	CA2	carbonic anhydrase 2	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:737257	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21517111
12051818	CA2	carbonic anhydrase 2	gene	DOID:3883	Lynch syndrome		ISO	RGD:737257	D	RGD:9068941	20220916	RGD		protein:decreased expression:colorectum	PMID:17855694|REF_RGD_ID:155226867
12051818	CA2	carbonic anhydrase 2	gene	DOID:4006	bladder urothelial carcinoma		ISO	RGD:2240	D	RGD:9068941	20241121	RGD		protein:increased expression:bladder epithelial cell	PMID:28004470|REF_RGD_ID:408426005
12051818	CA2	carbonic anhydrase 2	gene	DOID:4006	bladder urothelial carcinoma	severity	ISO	RGD:737257	D	RGD:9068941	20241121	RGD			PMID:28004470|REF_RGD_ID:408426005
12051818	CA2	carbonic anhydrase 2	gene	DOID:4988	alcoholic pancreatitis		ISO	RGD:737257	D	RGD:9068941	20241121	RGD			PMID:15831920|REF_RGD_ID:408425973
12051818	CA2	carbonic anhydrase 2	gene	DOID:630	genetic disease		ISO	RGD:737257	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12051818	CA2	carbonic anhydrase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:737257	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
12051818	CA2	carbonic anhydrase 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:737257	D	RGD:9068941	20241121	RGD			PMID:12806141|REF_RGD_ID:408425977
12051818	CA2	carbonic anhydrase 2	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:737257	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15378696
12051818	CA2	carbonic anhydrase 2	gene	DOID:9002315	Kidney Calculi		ISO	RGD:2240	D	RGD:9068941	20200609	RGD			PMID:10977795|REF_RGD_ID:1600710
12051818	CA2	carbonic anhydrase 2	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:2240	D	RGD:9068941	20241121	RGD		protein:increased expression:brain	PMID:30307711|REF_RGD_ID:408426007
12051818	CA2	carbonic anhydrase 2	gene	DOID:9003921	Zinc Deficiency		ISO	RGD:2240	D	RGD:9068941	20241123	RGD			PMID:24634117|REF_RGD_ID:408427354
12051818	CA2	carbonic anhydrase 2	gene	DOID:9003921	Zinc Deficiency		ISO	RGD:2240	D	RGD:9068941	20241123	RGD		protein:decreased expression:submandibular gland	PMID:17761013|REF_RGD_ID:408427355
12051818	CA2	carbonic anhydrase 2	gene	DOID:9006190	Chronic Pancreatitis		ISO	RGD:737257	D	RGD:9068941	20241121	RGD			PMID:12806141|REF_RGD_ID:408425977
12051818	CA2	carbonic anhydrase 2	gene	DOID:9006205	Animal Disease Models		ISO	RGD:732618	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15816485
12051818	CA2	carbonic anhydrase 2	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:737257	D	RGD:9068941	20241121	RGD			PMID:12806141|REF_RGD_ID:408425977
12051818	CA2	carbonic anhydrase 2	gene	DOID:9446	cholangitis		ISO	RGD:732618	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15816485
12051829	JCAD	junctional cadherin 5 associated	gene	DOID:3393	coronary artery disease		ISO	RGD:1346091	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21378988
12051847	UCMA	upper zone of growth plate and cartilage matrix associated	gene	DOID:0060878	hypoparathyroidism-deafness-renal disease syndrome		ISO	RGD:1350104	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome	PMID:25741868
12051847	UCMA	upper zone of growth plate and cartilage matrix associated	gene	DOID:10126	keratoconus		ISO	RGD:1350104	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Keratoconus	
12051865	UBE2Q2	ubiquitin conjugating enzyme E2 Q2	gene	DOID:0080519	PAPA syndrome		ISO	RGD:1605308	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Familial recurrent arthritis	PMID:28492532
12051865	UBE2Q2	ubiquitin conjugating enzyme E2 Q2	gene	DOID:1338	congenital dyserythropoietic anemia		ISO	RGD:1605308	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Congenital dyserythropoietic anemia	PMID:25741868
12051865	UBE2Q2	ubiquitin conjugating enzyme E2 Q2	gene	DOID:2717	Bloom syndrome		ISO	RGD:1605308	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Bloom syndrome	PMID:28492532
12051865	UBE2Q2	ubiquitin conjugating enzyme E2 Q2	gene	DOID:5419	schizophrenia		ISO	RGD:1605308	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
12051865	UBE2Q2	ubiquitin conjugating enzyme E2 Q2	gene	DOID:9256	colorectal cancer		ISO	RGD:1605308	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Familial colorectal cancer	PMID:28492532
12051886	FGGY	FGGY carbohydrate kinase domain containing	gene	DOID:1059	intellectual disability		ISO	RGD:1605365	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability, severe	PMID:25741868
12051886	FGGY	FGGY carbohydrate kinase domain containing	gene	DOID:9004657	Weight Gain		ISO	RGD:1605365	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29220483
12051886	FGGY	FGGY carbohydrate kinase domain containing	gene	DOID:9970	obesity		ISO	RGD:1605365	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29220483
12051958	ENTPD5	ectonucleoside triphosphate diphosphohydrolase 5 (inactive)	gene	DOID:0070243	primary coenzyme Q10 deficiency 6		ISO	RGD:1343601	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: COQ6-related condition | ClinVar Annotator: match by term: Familial steroid-resistant nephrotic syndrome with sensorineural deafness	PMID:21540551|PMID:24140869|PMID:25741868|PMID:28044327|PMID:28117207|PMID:28173653|PMID:28492532|PMID:30232548|PMID:30584653|PMID:30682496|PMID:31937884
12051958	ENTPD5	ectonucleoside triphosphate diphosphohydrolase 5 (inactive)	gene	DOID:0110613	primary ciliary dyskinesia 16		ISO	RGD:1343601	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia 16	PMID:21496787|PMID:28492532
12051958	ENTPD5	ectonucleoside triphosphate diphosphohydrolase 5 (inactive)	gene	DOID:1059	intellectual disability		ISO	RGD:1343601	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability, mild	
12051958	ENTPD5	ectonucleoside triphosphate diphosphohydrolase 5 (inactive)	gene	DOID:552	pneumonia		ISO	RGD:1343601	D	RGD:8554872	20241015	ClinVar		ClinVar Annotator: match by term: increased susceptibility to pneumonia	
12051958	ENTPD5	ectonucleoside triphosphate diphosphohydrolase 5 (inactive)	gene	DOID:630	genetic disease		ISO	RGD:1343601	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:24763291|PMID:25741868|PMID:28492532
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:0050974	spinocerebellar ataxia type 25		ISO	RGD:1317494	D	RGD:7240710	20220720	OMIM			
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:0050974	spinocerebellar ataxia type 25		ISO	RGD:1317494	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Spinocerebellar ataxia type 25	PMID:11080643|PMID:14705117|PMID:24088041|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26633545|PMID:28492532|PMID:30046113|PMID:30544257|PMID:30831263|PMID:31752325|PMID:32020600|PMID:32313153|PMID:33199448|PMID:34440436|PMID:35411967
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:0110521	autosomal recessive nonsyndromic deafness 70		ISO	RGD:1317494	D	RGD:7240710	20180130	OMIM			
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:0110521	autosomal recessive nonsyndromic deafness 70		ISO	RGD:1317494	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Deafness, autosomal recessive 70	PMID:11080643|PMID:23084290|PMID:23084291|PMID:24088041|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26467025|PMID:26633545|PMID:27759031|PMID:28492532|PMID:28594066|PMID:28708278|PMID:30046113|PMID:30244537|PMID:30831263|PMID:31752325|PMID:32020600|PMID:32313153|PMID:33199448|PMID:34740920|PMID:36147510
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:0111467	combined oxidative phosphorylation deficiency 13		ISO	RGD:1317494	D	RGD:7240710	20180130	OMIM			
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:0111467	combined oxidative phosphorylation deficiency 13		ISO	RGD:1317494	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 13	PMID:11080643|PMID:16199547|PMID:17576681|PMID:23084291|PMID:24088041|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26633542|PMID:26633545|PMID:27759031|PMID:28492532|PMID:28594066|PMID:28645153|PMID:30046113|PMID:30244537|PMID:30831263|PMID:31752325|PMID:32020600|PMID:32313153|PMID:33158637|PMID:33199448|PMID:33812062|PMID:34440436|PMID:34740920|PMID:36147510|PMID:9536098
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:5419	schizophrenia		ISO	RGD:1317494	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:630	genetic disease		ISO	RGD:1317494	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11080643|PMID:23084291|PMID:24088041|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26633545|PMID:27759031|PMID:28492532|PMID:28645153|PMID:30046113|PMID:30831263|PMID:31164858|PMID:31752325|PMID:32020600|PMID:32313153|PMID:33199448
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:630	genetic disease		ISO	RGD:1317494	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:11080643|PMID:23084291|PMID:24088041|PMID:25326635|PMID:25457163|PMID:25741868|PMID:26633545|PMID:27759031|PMID:28492532|PMID:28645153|PMID:30046113|PMID:30831263|PMID:31164858|PMID:31752325|PMID:32020600|PMID:32313153|PMID:33199448|PMID:34740920|PMID:36147510
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1317494	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21472284
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1317494	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:11080643|PMID:25326635|PMID:25457163|PMID:25741868|PMID:28492532|PMID:30046113|PMID:30831263|PMID:31752325|PMID:32020600|PMID:32313153
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9007966	Nonsyndromic Sensorineural Hearing Loss		ISO	RGD:1317494	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:c.1424A>G(p.E475G)(human)	PMID:23084290|REF_RGD_ID:11554169
12052003	PNPT1	polyribonucleotide nucleotidyltransferase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1317494	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:25741868
12052036	FOXP2	forkhead box P2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1351861	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotypes: :multiple	PMID:24356376|REF_RGD_ID:11535982
12052036	FOXP2	forkhead box P2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1351861	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12052036	FOXP2	forkhead box P2	gene	DOID:0060135	apraxia		ISO	RGD:1351861	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: DEVELOPMENTAL VERBAL DYSPRAXIA	PMID:15877281|PMID:16984964|PMID:25741868|PMID:27336128|PMID:27933109|PMID:28492532
12052036	FOXP2	forkhead box P2	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1351861	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
12052036	FOXP2	forkhead box P2	gene	DOID:0111275	speech-language disorder-1		ISO	RGD:1351861	D	RGD:7240710	20180130	OMIM			
12052036	FOXP2	forkhead box P2	gene	DOID:0111275	speech-language disorder-1		ISO	RGD:1351861	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Childhood apraxia of speech | ClinVar Annotator: match by term: FOXP2-related condition | ClinVar Annotator: match by term: Speech-language disorder 1	PMID:11586359|PMID:15877281|PMID:16470794|PMID:16984964|PMID:17033973|PMID:17330859|PMID:20858596|PMID:22105961|PMID:22106036|PMID:22144704|PMID:22434823|PMID:22766611|PMID:2332125|PMID:23918746|PMID:25232744|PMID:25741868|PMID:27336128|PMID:27572252|PMID:27933109|PMID:28492532|PMID:28708303|PMID:30377382
12052036	FOXP2	forkhead box P2	gene	DOID:0111275	speech-language disorder-1	no_association	ISO	RGD:1351861	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.P215A (human)	PMID:19352412|REF_RGD_ID:11536000
12052036	FOXP2	forkhead box P2	gene	DOID:1059	intellectual disability		ISO	RGD:1351861	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
12052036	FOXP2	forkhead box P2	gene	DOID:1094	attention deficit hyperactivity disorder		ISO	RGD:1351861	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype: :rs1229761, rs12533005 (human)	PMID:22504457|REF_RGD_ID:11535980
12052036	FOXP2	forkhead box P2	gene	DOID:1094	attention deficit hyperactivity disorder	no_association	ISO	RGD:1351861	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple	PMID:22504457|REF_RGD_ID:11535980
12052036	FOXP2	forkhead box P2	gene	DOID:12849	autistic disorder		ISO	RGD:1351861	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15108192|PMID:17033973
12052036	FOXP2	forkhead box P2	gene	DOID:12849	autistic disorder		ISO	RGD:1351861	D	RGD:9068941	20200609	RGD		DNA:SNP:intron	PMID:15737702|REF_RGD_ID:11535991
12052036	FOXP2	forkhead box P2	gene	DOID:12849	autistic disorder		ISO	RGD:1351861	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype	PMID:15108192|REF_RGD_ID:11535986
12052036	FOXP2	forkhead box P2	gene	DOID:12849	autistic disorder	no_association	ISO	RGD:1351861	D	RGD:9068941	20200609	RGD			PMID:15998549|REF_RGD_ID:11535984
12052036	FOXP2	forkhead box P2	gene	DOID:12849	autistic disorder	no_association	ISO	RGD:1351861	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :multiple	PMID:12655497|REF_RGD_ID:11535985
12052036	FOXP2	forkhead box P2	gene	DOID:12849	autistic disorder	no_association	ISO	RGD:1351861	D	RGD:9068941	20200609	RGD		DNA:repeat, deletion	PMID:12116195|REF_RGD_ID:11536001
12052036	FOXP2	forkhead box P2	gene	DOID:14681	Silver-Russell syndrome		ISO	RGD:1351861	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17033973
12052036	FOXP2	forkhead box P2	gene	DOID:1470	major depressive disorder		ISO	RGD:1351861	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs10447760 (human)	PMID:22404659|REF_RGD_ID:11535994
12052036	FOXP2	forkhead box P2	gene	DOID:1470	major depressive disorder	no_association	ISO	RGD:1351861	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple	PMID:22404659|REF_RGD_ID:11535994
12052036	FOXP2	forkhead box P2	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1351861	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma	PMID:27993330
12052036	FOXP2	forkhead box P2	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1351861	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Lung adenocarcinoma	PMID:27993330
12052036	FOXP2	forkhead box P2	gene	DOID:4186	articulation disorder		ISO	RGD:1351861	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype:5' utr:rs1852469, rs2396722 (human)	PMID:20923434|REF_RGD_ID:11535989
12052036	FOXP2	forkhead box P2	gene	DOID:4186	articulation disorder	no_association	ISO	RGD:1351861	D	RGD:9068941	20200609	RGD		DNA:SNPs::rs923875, rs17137124, rs1456031 (human)	PMID:20923434|REF_RGD_ID:11535989
12052036	FOXP2	forkhead box P2	gene	DOID:4428	dyslexia		ISO	RGD:1351861	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs12533005 (human)	PMID:21897444|REF_RGD_ID:11535997
12052036	FOXP2	forkhead box P2	gene	DOID:4428	dyslexia	no_association	ISO	RGD:1351861	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple	PMID:21897444|REF_RGD_ID:11535997
12052036	FOXP2	forkhead box P2	gene	DOID:4852	pleomorphic xanthoastrocytoma		ISO	RGD:1351861	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma	PMID:28299358
12052036	FOXP2	forkhead box P2	gene	DOID:5419	schizophrenia		ISO	RGD:1351861	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs10447760 (human)	PMID:22404659|REF_RGD_ID:11535994
12052036	FOXP2	forkhead box P2	gene	DOID:5419	schizophrenia		ISO	RGD:1351861	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype: :multiple	PMID:16538183|REF_RGD_ID:11535988
12052036	FOXP2	forkhead box P2	gene	DOID:5419	schizophrenia	no_association	ISO	RGD:1351861	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple	PMID:22404659|REF_RGD_ID:11535994
12052036	FOXP2	forkhead box P2	gene	DOID:630	genetic disease		ISO	RGD:1351861	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15877281|PMID:16984964|PMID:22434823|PMID:25232744|PMID:25741868|PMID:27336128|PMID:27572252|PMID:27933109|PMID:28492532
12052036	FOXP2	forkhead box P2	gene	DOID:9001488	Human Influenza		ISO	RGD:1615752	D	RGD:9068941	20200609	RGD			PMID:18248790|REF_RGD_ID:11536002
12052036	FOXP2	forkhead box P2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1351861	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12052036	FOXP2	forkhead box P2	gene	DOID:9005466	Language Development Disorders		ISO	RGD:1351861	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27120335
12052036	FOXP2	forkhead box P2	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1351861	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17033973
12052036	FOXP2	forkhead box P2	gene	DOID:93	language disorder		ISO	RGD:1351861	D	RGD:9068941	20200609	RGD		associated with Schizophrenia;DNA:SNP: :rs2253478 (human)	PMID:20649982|REF_RGD_ID:11535993
12052066	MNX1	motor neuron and pancreas homeobox 1	gene	DOID:0110875	holoprosencephaly 3		ISO	RGD:1344566	D	RGD:8554872	20230314	ClinVar		ClinVar Annotator: match by term: Holoprosencephaly 3	PMID:10631160|PMID:10749657|PMID:16254195|PMID:19603532|PMID:20425842|PMID:21976454|PMID:22354285|PMID:22683912|PMID:23370340|PMID:24095820|PMID:28284480|PMID:28492532|PMID:28588853|PMID:29983323|PMID:29992659|PMID:31334757|PMID:32677110
12052066	MNX1	motor neuron and pancreas homeobox 1	gene	DOID:0111546	Currarino syndrome		ISO	RGD:1344566	D	RGD:7240710	20180130	OMIM			
12052066	MNX1	motor neuron and pancreas homeobox 1	gene	DOID:0111546	Currarino syndrome		ISO	RGD:1344566	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Currarino triad | ClinVar Annotator: match by term: MNX1-related condition	PMID:10631160|PMID:10749657|PMID:11528505|PMID:16254195|PMID:16906559|PMID:18449898|PMID:24095820|PMID:25741868|PMID:28492532|PMID:29401559|PMID:32571425|PMID:33836786|PMID:36474027|PMID:38177409|PMID:7550324|PMID:9843207
12052066	MNX1	motor neuron and pancreas homeobox 1	gene	DOID:12849	autistic disorder		ISO	RGD:1344566	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
12052066	MNX1	motor neuron and pancreas homeobox 1	gene	DOID:630	genetic disease		ISO	RGD:1344566	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:29401559
12052074	CGREF1	cell growth regulator with EF-hand domain 1	gene	DOID:0111680	essential fructosuria		ISO	RGD:1353373	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Essential fructosuria | ClinVar Annotator: match by term: KETOHEXOKINASE DEFICIENCY	PMID:25741868|PMID:28492532
12052074	CGREF1	cell growth regulator with EF-hand domain 1	gene	DOID:0112339	Tatton-Brown-Rahman syndrome		ISO	RGD:1353373	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome	PMID:28492532
12052074	CGREF1	cell growth regulator with EF-hand domain 1	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1353373	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:28108177
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:0080059	autosomal recessive spinocerebellar ataxia 7		ISO	RGD:1603717	D	RGD:7240710	20180130	OMIM			
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:0080059	autosomal recessive spinocerebellar ataxia 7		ISO	RGD:1603717	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 7 | ClinVar Annotator: match by term: Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | ClinVar Annotator: match by term: TPP1-related condition	PMID:10330339|PMID:10862088|PMID:11017954|PMID:11071145|PMID:11339651|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12796825|PMID:12950156|PMID:15317752|PMID:15520412|PMID:16199547|PMID:16782851|PMID:16814585|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20301601|PMID:20340139|PMID:21990111|PMID:22245569|PMID:22612257|PMID:22752289|PMID:23266810|PMID:23418007|PMID:23539563|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:26026925|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26795593|PMID:27407112|PMID:27553520|PMID:28335910|PMID:28464005|PMID:28492532|PMID:29631617|PMID:29655203|PMID:29687370|PMID:30119717|PMID:30771299|PMID:31122803|PMID:31283065|PMID:31489614|PMID:32329550|PMID:32412666|PMID:32855042|PMID:34126256|PMID:36403551|PMID:9295267|PMID:9536098|PMID:9788728
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1603717	D	RGD:7240710	20180130	OMIM			
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1603717	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2	PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11462245|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:16880378|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27776828|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:28717666|PMID:29056246|PMID:29655203|PMID:29924869|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31059981|PMID:31283065|PMID:31489614|PMID:31741823|PMID:32146219|PMID:33348105|PMID:9295267|PMID:9536098|PMID:9788728
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1603717	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2	PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:16880378|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27776828|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:28717666|PMID:29056246|PMID:29924869|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31059981|PMID:31283065|PMID:31489614|PMID:31741823|PMID:32146219|PMID:33348105|PMID:9295267|PMID:9536098|PMID:9788728
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1603717	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Late-infantile neuronal ceroid lipofuscinosis | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2	PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:16880378|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20301601|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27776828|PMID:28165011|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:28717666|PMID:29056246|PMID:29631617|PMID:29924869|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31059981|PMID:31283065|PMID:31489614|PMID:31741823|PMID:32146219|PMID:33348105|PMID:34849271|PMID:9295267|PMID:9536098|PMID:9788728
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1603717	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2	PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11462245|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:16880378|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20301601|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22344438|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27776828|PMID:28165011|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:28717666|PMID:29056246|PMID:29631617|PMID:29655203|PMID:29924869|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:30831263|PMID:31059981|PMID:31069529|PMID:31139143|PMID:31283065|PMID:31489614|PMID:31589614|PMID:31741823|PMID:32005694|PMID:32146219|PMID:32329550|PMID:32580858|PMID:32855042|PMID:33348105|PMID:33377563|PMID:33604240|PMID:34126256|PMID:34849271|PMID:35314707|PMID:9295267|PMID:9536098|PMID:9788728
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:0110726	neuronal ceroid lipofuscinosis 2		ISO	RGD:1603717	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 2	PMID:10330339|PMID:10356316|PMID:10477428|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11241479|PMID:11339651|PMID:11462245|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:16880378|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20301601|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22221116|PMID:22245569|PMID:22344438|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26026925|PMID:26032578|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27776828|PMID:28165011|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:28717666|PMID:29056246|PMID:29631617|PMID:29655203|PMID:29687370|PMID:29924869|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:30831263|PMID:31059981|PMID:31069529|PMID:31122803|PMID:31139143|PMID:31283065|PMID:31489614|PMID:31589614|PMID:31741823|PMID:32005694|PMID:32146219|PMID:32329550|PMID:32412666|PMID:32580858|PMID:32855042|PMID:33348105|PMID:33356800|PMID:33377563|PMID:33604240|PMID:34126256|PMID:34849271|PMID:35314707|PMID:36034292|PMID:36403551|PMID:36539902|PMID:37922835|PMID:9295267|PMID:9536098|PMID:9788728
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:1059	intellectual disability		ISO	RGD:1603717	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1603717	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10320038
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1603717	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	PMID:10330339|PMID:10356316|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11071145|PMID:11339651|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:14736728|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20340139|PMID:21990111|PMID:22245569|PMID:22612257|PMID:22832778|PMID:23266810|PMID:23418007|PMID:23539563|PMID:24033266|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:26026925|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27407112|PMID:27553520|PMID:28335910|PMID:28464005|PMID:28492532|PMID:29056246|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31216804|PMID:31283065|PMID:31489614|PMID:31741823|PMID:32146219|PMID:33348105|PMID:9295267|PMID:9536098|PMID:9788728
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1603717	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	PMID:10330339|PMID:10356316|PMID:10665500|PMID:10862088|PMID:11017954|PMID:11054422|PMID:11071145|PMID:11339651|PMID:11589012|PMID:11589013|PMID:12125808|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:15317752|PMID:15520412|PMID:15965709|PMID:16199547|PMID:16782851|PMID:16814585|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18411270|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19038967|PMID:19201763|PMID:19246452|PMID:19793312|PMID:20301601|PMID:20340139|PMID:20820830|PMID:21990111|PMID:22245569|PMID:22344438|PMID:22612257|PMID:22832778|PMID:23266810|PMID:23374165|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:25326635|PMID:25356970|PMID:25525159|PMID:25741868|PMID:26026925|PMID:26075876|PMID:26143525|PMID:26224725|PMID:26467025|PMID:26633542|PMID:26795593|PMID:27146152|PMID:27407112|PMID:27553520|PMID:28165011|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28554332|PMID:29056246|PMID:29631617|PMID:29655203|PMID:29687370|PMID:30119717|PMID:30541466|PMID:30771299|PMID:30792901|PMID:31059981|PMID:31069529|PMID:31122803|PMID:31139143|PMID:31216804|PMID:31283065|PMID:31440721|PMID:31489614|PMID:31589614|PMID:31741823|PMID:32146219|PMID:32329550|PMID:32412666|PMID:33348105|PMID:33377563|PMID:33604240|PMID:34120799|PMID:34849271|PMID:35314707|PMID:35796208|PMID:36034292|PMID:36034301|PMID:36403551|PMID:9295267|PMID:9536098|PMID:9788728
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:1826	epilepsy		ISO	RGD:1603717	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:10330339|PMID:18414213|PMID:19038966|PMID:21990111|PMID:22752289|PMID:22832778|PMID:23266810|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25741868|PMID:26467025|PMID:27553520|PMID:27776828|PMID:28492532|PMID:28717666|PMID:31283065|PMID:31489614|PMID:34849271
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:1826	epilepsy		ISO	RGD:1603717	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:26467025|PMID:28492532
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:1932	Angelman syndrome		ISO	RGD:1603717	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Angelman syndrome	PMID:10330339|PMID:21990111|PMID:25741868|PMID:28492532|PMID:30792901
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:3883	Lynch syndrome		ISO	RGD:1603717	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Hereditary Nonpolyposis Colorectal Cancer Syndrome	PMID:10330339|PMID:20340139|PMID:25741868|PMID:26075876|PMID:28492532|PMID:29655203|PMID:30119717|PMID:36403551|PMID:9295267|PMID:9788728
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:630	genetic disease		ISO	RGD:1603717	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10330339|PMID:10356316|PMID:10665500|PMID:11017954|PMID:11071145|PMID:11339651|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12698559|PMID:12796825|PMID:12950156|PMID:15317752|PMID:15520412|PMID:16199547|PMID:16782851|PMID:16814585|PMID:17576681|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18414213|PMID:18473686|PMID:18684116|PMID:19038966|PMID:19201763|PMID:19793312|PMID:20301601|PMID:20340139|PMID:21990111|PMID:22245569|PMID:22344438|PMID:22612257|PMID:22752289|PMID:22832778|PMID:23266810|PMID:23418007|PMID:23539563|PMID:24033266|PMID:24091540|PMID:24767253|PMID:25356970|PMID:25525159|PMID:25741868|PMID:26026925|PMID:26075876|PMID:26224725|PMID:26467025|PMID:26795593|PMID:27407112|PMID:27553520|PMID:27604308|PMID:27776828|PMID:28335910|PMID:28464005|PMID:28492532|PMID:28717666|PMID:29056246|PMID:29631617|PMID:29687370|PMID:30541466|PMID:31122803|PMID:31283065|PMID:31489614|PMID:32329550|PMID:32412666|PMID:33356800|PMID:34849271|PMID:36034292|PMID:36539902|PMID:9295267|PMID:9536098|PMID:9788728
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:1603717	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive	PMID:25741868|PMID:26467025|PMID:28492532
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1603717	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12052088	TPP1	tripeptidyl peptidase 1	gene	DOID:9006534	Nervous System Malformations		ISO	RGD:1603717	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Abnormality of the nervous system	PMID:10330339|PMID:11017954|PMID:11071145|PMID:12376936|PMID:12414822|PMID:12488460|PMID:12796825|PMID:12950156|PMID:15317752|PMID:16782851|PMID:16814585|PMID:17679671|PMID:17959406|PMID:18283468|PMID:18473686|PMID:18684116|PMID:19201763|PMID:19793312|PMID:20301601|PMID:21990111|PMID:22245569|PMID:23266810|PMID:23418007|PMID:23539563|PMID:25525159|PMID:25741868|PMID:26026925|PMID:26075876|PMID:26467025|PMID:26795593|PMID:27407112|PMID:27553520|PMID:28464005|PMID:28492532|PMID:29631617|PMID:29687370|PMID:31122803|PMID:32412666|PMID:9295267|PMID:9788728
12052103	SCUBE2	signal peptide, CUB domain and EGF like domain containing 2	gene	DOID:0060688	arteriovenous malformations of the brain		ISO	RGD:1352842	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebral arteriovenous malformation	PMID:25741868
12052140	PIK3IP1	phosphoinositide-3-kinase interacting protein 1	gene	DOID:9775	diastolic heart failure		ISO	RGD:1605305	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29556499
12052158	CAMK2N2	calcium/calmodulin dependent protein kinase II inhibitor 2	gene	DOID:0080556	congenital disorder of glycosylation Id		ISO	RGD:732268	D	RGD:8554872	20230314	ClinVar		ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D	PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532
12052158	CAMK2N2	calcium/calmodulin dependent protein kinase II inhibitor 2	gene	DOID:0080579	3-methylcrotonyl-CoA carboxylase 1 deficiency		ISO	RGD:732268	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1	PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532
12052158	CAMK2N2	calcium/calmodulin dependent protein kinase II inhibitor 2	gene	DOID:0111546	Currarino syndrome		ISO	RGD:732268	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Currarino triad	PMID:21681106|PMID:27549440
12052164	PRIM1	DNA primase subunit 1	gene	DOID:0050569	Seckel syndrome		ISO	RGD:1348091	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Microcephalic primordial dwarfism	PMID:33060134
12052164	PRIM1	DNA primase subunit 1	gene	DOID:0110173	Charcot-Marie-Tooth disease axonal type 2U		ISO	RGD:1348091	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U	PMID:28492532
12052164	PRIM1	DNA primase subunit 1	gene	DOID:0110251	cataract 15 multiple types		ISO	RGD:1348091	D	RGD:8554872	20240716	ClinVar		ClinVar Annotator: match by term: Cataract 15 multiple types	PMID:28492532
12052164	PRIM1	DNA primase subunit 1	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1348091	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian failure	PMID:25741868
12052164	PRIM1	DNA primase subunit 1	gene	DOID:607	paraplegia		ISO	RGD:1348091	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:28492532
12052164	PRIM1	DNA primase subunit 1	gene	DOID:9002394	INTERSTITIAL LUNG AND LIVER DISEASE		ISO	RGD:1348091	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Interstitial lung and liver disease	PMID:28492532
12052164	PRIM1	DNA primase subunit 1	gene	DOID:9004216	PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME		ISO	RGD:1348091	D	RGD:7240710	20221221	OMIM			
12052164	PRIM1	DNA primase subunit 1	gene	DOID:9004216	PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME		ISO	RGD:1348091	D	RGD:8554872	20221220	ClinVar		ClinVar Annotator: match by term: Primordial dwarfism-immunodeficiency-lipodystrophy syndrome	PMID:33060134
12052181	F7	coagulation factor VII	gene	DOID:0080941	acquired angioedema	disease_progression	ISO	RGD:1345586	D	RGD:9068941	20200609	RGD			PMID:9129025|REF_RGD_ID:11565081
12052181	F7	coagulation factor VII	gene	DOID:10763	hypertension		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD			PMID:10450539|REF_RGD_ID:2312402
12052181	F7	coagulation factor VII	gene	DOID:10763	hypertension		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		protein:increased activity:plasma (human)	PMID:8123879|REF_RGD_ID:2312412
12052181	F7	coagulation factor VII	gene	DOID:10763	hypertension		ISO	RGD:628678	D	RGD:9068941	20200609	RGD		protein:increased activity:plasma (rat)	PMID:812575|REF_RGD_ID:2312323
12052181	F7	coagulation factor VII	gene	DOID:11247	disseminated intravascular coagulation		ISO	RGD:1345586	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16159073
12052181	F7	coagulation factor VII	gene	DOID:1168	familial hyperlipidemia		ISO	RGD:628678	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (rat)	PMID:11776312|REF_RGD_ID:2312300
12052181	F7	coagulation factor VII	gene	DOID:12134	factor VIII deficiency		ISO	RGD:1345586	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hemophilia	PMID:25741868
12052181	F7	coagulation factor VII	gene	DOID:1247	blood coagulation disease		ISO	RGD:1345586	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Abnormality of coagulation	PMID:25741868|PMID:28492532|PMID:31064749|PMID:8844208
12052181	F7	coagulation factor VII	gene	DOID:1459	hypothyroidism		ISO	RGD:628678	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (rat)	PMID:989968|REF_RGD_ID:2312322
12052181	F7	coagulation factor VII	gene	DOID:14735	hereditary angioedema	disease_progression	ISO	RGD:1345586	D	RGD:9068941	20200609	RGD			PMID:9129025|REF_RGD_ID:11565081
12052181	F7	coagulation factor VII	gene	DOID:1588	thrombocytopenia	treatment	ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:19175492|REF_RGD_ID:11049531
12052181	F7	coagulation factor VII	gene	DOID:1612	breast cancer		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		mRNA:increased expression:breast (human)	PMID:19996301|REF_RGD_ID:11049547
12052181	F7	coagulation factor VII	gene	DOID:2213	hemorrhagic disease		ISO	RGD:1345586	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Abnormal bleeding	PMID:10862079|PMID:11092214|PMID:11931672|PMID:14521598|PMID:15456489|PMID:15735798|PMID:15741795|PMID:18282149|PMID:18976247|PMID:22180436|PMID:24533960|PMID:25582404|PMID:25741868|PMID:27227566|PMID:28492532|PMID:29246447|PMID:29618153|PMID:31064749|PMID:33477601|PMID:37761907|PMID:38202056|PMID:38397060|PMID:7919338|PMID:7981691
12052181	F7	coagulation factor VII	gene	DOID:2215	factor VII deficiency		IAGP		D	RGD:12801476	20240724	OMIA		Factor VII deficiency	PMID:5045961|PMID:1788825|PMID:8128434|PMID:9196814|PMID:2896576|PMID:2870866|PMID:6469849|PMID:3436375|PMID:5416591|PMID:6075264|PMID:16961583|PMID:17939552|PMID:19712579|PMID:19293459|PMID:4449220|PMID:4830986|PMID:5527820|PMID:14477610|PMID:1799659|PMID:3207628|PMID:5027610|PMID:5677303|PMID:21216638|PMID:22108258|PMID:3282382|PMID:4604529|PMID:27525650|PMID:29035661|PMID:29708978|PMID:30661469|PMID:34544496|PMID:35949113|PMID:36780177
12052181	F7	coagulation factor VII	gene	DOID:2215	factor VII deficiency		ISO	RGD:1345586	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Congenital factor VII deficiency | ClinVar Annotator: match by term: Factor VII deficiency	PMID:10554827|PMID:10739380|PMID:10862079|PMID:10959697|PMID:10984565|PMID:11091194|PMID:11092214|PMID:11110717|PMID:11129332|PMID:11139238|PMID:11225604|PMID:11260055|PMID:11313743|PMID:11529858|PMID:11918550|PMID:11931672|PMID:12181036|PMID:12472587|PMID:12632035|PMID:12695753|PMID:12903033|PMID:12935978|PMID:14521598|PMID:14717781|PMID:15142120|PMID:15194538|PMID:15456489|PMID:15735798|PMID:15741795|PMID:15907525|PMID:1634227|PMID:16620721|PMID:16753603|PMID:18180623|PMID:18282149|PMID:18669152|PMID:18976247|PMID:19141116|PMID:19601987|PMID:19751712|PMID:19780835|PMID:20040857|PMID:2070047|PMID:20735728|PMID:20958793|PMID:21206266|PMID:21287501|PMID:21902896|PMID:22180436|PMID:22327826|PMID:22353194|PMID:22426302|PMID:22873696|PMID:23358202|PMID:23672839|PMID:23731332|PMID:24033266|PMID:24533960|PMID:24711753|PMID:25275492|PMID:25525159|PMID:25582404|PMID:25741868|PMID:25828579|PMID:25863091|PMID:25952977|PMID:26105150|PMID:27227566|PMID:27341548|PMID:27848944|PMID:28038846|PMID:28447100|PMID:28492532|PMID:28684918|PMID:29246447|PMID:29318701|PMID:29618153|PMID:30208845|PMID:31064749|PMID:31273093|PMID:31467667|PMID:31577732|PMID:31589614|PMID:32333443|PMID:33477601|PMID:33587484|PMID:34342048|PMID:34355501|PMID:34368331|PMID:34722427|PMID:35349734|PMID:35356632|PMID:35552711|PMID:35802509|PMID:35867939|PMID:36571800|PMID:36572978|PMID:36696193|PMID:36719811|PMID:36760778|PMID:36951360|PMID:37091489|PMID:37521340|PMID:37761907|PMID:38202056|PMID:38385952|PMID:38397060|PMID:38614915|PMID:627745|PMID:6812354|PMID:7919338|PMID:7974346|PMID:7981691|PMID:8043443|PMID:8242057|PMID:8244334|PMID:8364544|PMID:8448207|PMID:8652821|PMID:8844208|PMID:8883260|PMID:8940045|PMID:8978290|PMID:9308740|PMID:9414278|PMID:9576180|PMID:9657438|PMID:9716591|PMID:9949166
12052181	F7	coagulation factor VII	gene	DOID:2215	factor VII deficiency	susceptibility	ISO	RGD:1345586	D	RGD:7240710	20250108	OMIM			
12052181	F7	coagulation factor VII	gene	DOID:2222	factor X deficiency		ISO	RGD:1345586	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Factor X deficiency	PMID:10984565|PMID:12181036|PMID:25741868|PMID:34355501
12052181	F7	coagulation factor VII	gene	DOID:2235	prothrombin deficiency		ISO	RGD:628678	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma (rat)	PMID:2810399|REF_RGD_ID:2312318
12052181	F7	coagulation factor VII	gene	DOID:2349	arteriosclerosis	severity	ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		protein:increased activity:plasma (human)	PMID:9569183|REF_RGD_ID:2312403
12052181	F7	coagulation factor VII	gene	DOID:2394	ovarian cancer		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		protein:increased expression:ovarian surface epithelium (human)	PMID:19904262|REF_RGD_ID:11049516
12052181	F7	coagulation factor VII	gene	DOID:2741	bilirubin metabolic disorder		ISO	RGD:628678	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum (rat)	PMID:14724430|REF_RGD_ID:1304286
12052181	F7	coagulation factor VII	gene	DOID:2841	asthma	treatment	ISO	RGD:628678	D	RGD:9068941	20200609	RGD			PMID:24523826|REF_RGD_ID:11040539
12052181	F7	coagulation factor VII	gene	DOID:2913	acute pancreatitis	treatment	ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:17506000|REF_RGD_ID:11049543
12052181	F7	coagulation factor VII	gene	DOID:3393	coronary artery disease		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:cds:R353Q (human)	PMID:11334615|REF_RGD_ID:2312397
12052181	F7	coagulation factor VII	gene	DOID:3393	coronary artery disease		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human)	PMID:10599031|REF_RGD_ID:2312400
12052181	F7	coagulation factor VII	gene	DOID:3393	coronary artery disease		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		protein:increased activity:plasma (human)	PMID:8522401|REF_RGD_ID:2312408
12052181	F7	coagulation factor VII	gene	DOID:3526	cerebral infarction		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		protein:increased expression, increased activity:plasma (human)	PMID:14733777|REF_RGD_ID:11049518
12052181	F7	coagulation factor VII	gene	DOID:3526	cerebral infarction	treatment	ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		human protein in a mouse model	PMID:21998055|REF_RGD_ID:11049520
12052181	F7	coagulation factor VII	gene	DOID:4195	hyperglycemia		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human)	PMID:3240844|REF_RGD_ID:2312413
12052181	F7	coagulation factor VII	gene	DOID:557	kidney disease		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human)	PMID:15608477|REF_RGD_ID:2312390
12052181	F7	coagulation factor VII	gene	DOID:576	proteinuria		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus; protein:increased activity:plasma (human)	PMID:509177|REF_RGD_ID:2312414
12052181	F7	coagulation factor VII	gene	DOID:5844	myocardial infarction		ISO	RGD:1345586	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: F7-related condition | ClinVar Annotator: match by term: Myocardial infarction, decreased susceptibility to | ClinVar Annotator: match by term: Myocardial infarction, susceptibility to	PMID:10554827|PMID:10862079|PMID:10959697|PMID:10984565|PMID:11092214|PMID:11129332|PMID:11918550|PMID:11931672|PMID:12181036|PMID:12695753|PMID:12903033|PMID:12935978|PMID:14521598|PMID:15142120|PMID:15194538|PMID:15456489|PMID:15590402|PMID:15735798|PMID:15741795|PMID:15907525|PMID:1634227|PMID:16732384|PMID:16753603|PMID:18282149|PMID:18669152|PMID:18976247|PMID:19751712|PMID:20040857|PMID:2070047|PMID:20735728|PMID:20958793|PMID:21902896|PMID:22180436|PMID:22327826|PMID:23731332|PMID:24533960|PMID:24711753|PMID:25582404|PMID:25741868|PMID:25828579|PMID:25952977|PMID:26105150|PMID:27227566|PMID:27848944|PMID:28447100|PMID:28492532|PMID:29246447|PMID:29618153|PMID:31064749|PMID:31467667|PMID:32333443|PMID:33477601|PMID:34342048|PMID:34355501|PMID:35356632|PMID:35552711|PMID:35802509|PMID:36719811|PMID:36760778|PMID:37055848|PMID:37521340|PMID:37761907|PMID:38202056|PMID:38387429|PMID:38397060|PMID:627745|PMID:6812354|PMID:7919338|PMID:7974346|PMID:7981691|PMID:8043443|PMID:8242057|PMID:8448207|PMID:8844208|PMID:8883260|PMID:9657438|PMID:9949166
12052181	F7	coagulation factor VII	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:1345586	D	RGD:7240710	20250108	OMIM			
12052181	F7	coagulation factor VII	gene	DOID:630	genetic disease		ISO	RGD:1345586	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12052181	F7	coagulation factor VII	gene	DOID:8805	intermediate coronary syndrome		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (human)	PMID:10653827|REF_RGD_ID:2312399
12052181	F7	coagulation factor VII	gene	DOID:8947	diabetic retinopathy		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human)	PMID:10837382|REF_RGD_ID:2312398
12052181	F7	coagulation factor VII	gene	DOID:9000363	Hematuria		ISO	RGD:1345586	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:17133240
12052181	F7	coagulation factor VII	gene	DOID:9000790	Postoperative Complications		ISO	RGD:1345586	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12707733
12052181	F7	coagulation factor VII	gene	DOID:9001044	Choroidal Neovascularization		ISO	RGD:731512	D	RGD:9068941	20200609	RGD		mouse protein in a rat model	PMID:19357351|REF_RGD_ID:2312299
12052181	F7	coagulation factor VII	gene	DOID:9001542	Albuminuria		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent; protein:increased activity:plasma (human)	PMID:8458188|REF_RGD_ID:2312410
12052181	F7	coagulation factor VII	gene	DOID:9001542	Albuminuria	no_association	ISO	RGD:1345586	D	RGD:9068941	20200609	RGD			PMID:8250495|REF_RGD_ID:2312407
12052181	F7	coagulation factor VII	gene	DOID:9001542	Albuminuria	severity	ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human)	PMID:9187410|REF_RGD_ID:2312406
12052181	F7	coagulation factor VII	gene	DOID:9002153	Chronic Allograft Dysfunction	treatment	ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:12095034|REF_RGD_ID:11049508
12052181	F7	coagulation factor VII	gene	DOID:9002557	Inherited Blood Coagulation Disease	treatment	ISO	RGD:1345586	D	RGD:9068941	20200609	RGD			PMID:10469179|REF_RGD_ID:11041654
12052181	F7	coagulation factor VII	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:1345586	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16671457|PMID:21127298
12052181	F7	coagulation factor VII	gene	DOID:9002676	Cerebral Hemorrhage	treatment	ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:16671457|REF_RGD_ID:11049545
12052181	F7	coagulation factor VII	gene	DOID:9003104	Intracranial Hemorrhages		ISO	RGD:1345586	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15595332|PMID:16159073|PMID:18617125|PMID:20172985|PMID:20522813
12052181	F7	coagulation factor VII	gene	DOID:9003121	Thromboembolism		ISO	RGD:1345586	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20172985
12052181	F7	coagulation factor VII	gene	DOID:9003356	Extrahepatic Portal Vein Obstruction		ISO	RGD:628678	D	RGD:9068941	20200609	RGD		mRNA:altered expression:liver (rat)	PMID:17660074|REF_RGD_ID:2312312
12052181	F7	coagulation factor VII	gene	DOID:9003646	Arterial Thrombosis	treatment	ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:11167855|REF_RGD_ID:11049507
12052181	F7	coagulation factor VII	gene	DOID:9003646	Arterial Thrombosis	treatment	ISO	RGD:628678	D	RGD:9068941	20200609	RGD			PMID:12714830|REF_RGD_ID:11041657
12052181	F7	coagulation factor VII	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:1345586	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14967414
12052181	F7	coagulation factor VII	gene	DOID:9003871	Venous Thrombosis	treatment	ISO	RGD:628678	D	RGD:9068941	20200609	RGD			PMID:16378835|REF_RGD_ID:11041650
12052181	F7	coagulation factor VII	gene	DOID:9004484	Sepsis		ISO	RGD:628678	D	RGD:9068941	20200609	RGD		protein:decreased activity:plasma (rat)	PMID:3660344|REF_RGD_ID:2312320
12052181	F7	coagulation factor VII	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:628678	D	RGD:9068941	20200609	RGD			PMID:12000738|REF_RGD_ID:1598921
12052181	F7	coagulation factor VII	gene	DOID:9004562	Smoke Inhalation Injury		ISO	RGD:628678	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum (rat)	PMID:15204765|REF_RGD_ID:2312315
12052181	F7	coagulation factor VII	gene	DOID:9004590	Acute Liver Failure		ISO	RGD:1345586	D	RGD:9068941	20220609	CTD		CTD Direct Evidence: marker/mechanism	PMID:35172013
12052181	F7	coagulation factor VII	gene	DOID:9005269	Stable Angina		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		protein:increased activity:plasma (human)	PMID:17357481|REF_RGD_ID:11049525
12052181	F7	coagulation factor VII	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:628678	D	RGD:9068941	20200609	RGD			PMID:11474472|REF_RGD_ID:2312396
12052181	F7	coagulation factor VII	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:628678	D	RGD:9068941	20200609	RGD		protein:decreased activity:plasma (rat)	PMID:16779662|REF_RGD_ID:2312313
12052181	F7	coagulation factor VII	gene	DOID:9005930	Endotoxemia		ISO	RGD:628678	D	RGD:9068941	20200609	RGD			PMID:11092686|REF_RGD_ID:7394782
12052181	F7	coagulation factor VII	gene	DOID:9005930	Endotoxemia	treatment	ISO	RGD:731512	D	RGD:9068941	20200609	RGD			PMID:16378835|REF_RGD_ID:11041650
12052181	F7	coagulation factor VII	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1345586	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21127298
12052181	F7	coagulation factor VII	gene	DOID:9006493	Glandular and Epithelial Neoplasms		ISO	RGD:628678	D	RGD:9068941	20200609	RGD		protein:altered activity:plasma (rat)	PMID:2716922|REF_RGD_ID:2312392
12052181	F7	coagulation factor VII	gene	DOID:9006599	Hypertriglyceridemia		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human)	PMID:19329212|REF_RGD_ID:2312379
12052181	F7	coagulation factor VII	gene	DOID:9007622	Acute Subdural Hematoma		ISO	RGD:1345586	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12503044
12052181	F7	coagulation factor VII	gene	DOID:9007692	Insulin Resistance	severity	ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human)	PMID:9187410|REF_RGD_ID:2312406
12052181	F7	coagulation factor VII	gene	DOID:9007755	Intestinal Reperfusion Injury		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:22920553|REF_RGD_ID:11041662
12052181	F7	coagulation factor VII	gene	DOID:9008217	Hemorrhage		ISO	RGD:1345586	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12707733|PMID:12851533|PMID:16553518
12052181	F7	coagulation factor VII	gene	DOID:9008443	Colorectal Neoplasms	severity	ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		protein:increased expression:colorectal mucosa (human)	PMID:22166631|REF_RGD_ID:11049522
12052181	F7	coagulation factor VII	gene	DOID:9008598	Traumatic Intracranial Hemorrhage		ISO	RGD:1345586	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20370756
12052181	F7	coagulation factor VII	gene	DOID:9256	colorectal cancer		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		human protein in a rat model	PMID:19062044|REF_RGD_ID:11049532
12052181	F7	coagulation factor VII	gene	DOID:9351	diabetes mellitus		ISO	RGD:628678	D	RGD:9068941	20200609	RGD			PMID:10910004|REF_RGD_ID:2312393
12052181	F7	coagulation factor VII	gene	DOID:9351	diabetes mellitus		ISO	RGD:628678	D	RGD:9068941	20200609	RGD		protein:increased activity:plasma (rat)	PMID:10899350|REF_RGD_ID:1598920
12052181	F7	coagulation factor VII	gene	DOID:9351	diabetes mellitus	no_association	ISO	RGD:1345586	D	RGD:9068941	20200609	RGD			PMID:15258325|REF_RGD_ID:2312391
12052181	F7	coagulation factor VII	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD			PMID:11689270|REF_RGD_ID:2312382
12052181	F7	coagulation factor VII	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		associated with Brain Infarction; protein:increased activity:plasma (human)	PMID:18000605|REF_RGD_ID:2312380
12052181	F7	coagulation factor VII	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		associated with Kidney Failure; protein:increased expression:plasma (human)	PMID:15860378|REF_RGD_ID:2312383
12052181	F7	coagulation factor VII	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		protein:increased activity:plasma (human)	PMID:17785358|REF_RGD_ID:2312381
12052181	F7	coagulation factor VII	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:628678	D	RGD:9068941	20200609	RGD			PMID:14614217|REF_RGD_ID:2312394
12052181	F7	coagulation factor VII	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:1345586	D	RGD:9068941	20200609	RGD			PMID:11137328|REF_RGD_ID:2312386
12052181	F7	coagulation factor VII	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:1345586	D	RGD:9068941	20200609	RGD			PMID:10332679|REF_RGD_ID:2312388
12052181	F7	coagulation factor VII	gene	DOID:9743	diabetic neuropathy		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent; protein:altered expression:plasma (human)	PMID:10468085|REF_RGD_ID:2312401
12052181	F7	coagulation factor VII	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD			PMID:11146704|REF_RGD_ID:2312385
12052181	F7	coagulation factor VII	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds:R353Q (human)	PMID:9686915|REF_RGD_ID:2312389
12052181	F7	coagulation factor VII	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		associated with Kidney Failure; protein:increased expression:plasma (human)	PMID:15860378|REF_RGD_ID:2312383
12052181	F7	coagulation factor VII	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		protein:increased activity, expression:plasma (human)	PMID:11297753|REF_RGD_ID:2312384
12052181	F7	coagulation factor VII	gene	DOID:9970	obesity		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD			PMID:14513073|REF_RGD_ID:2312395
12052181	F7	coagulation factor VII	gene	DOID:9970	obesity		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent	PMID:9258277|REF_RGD_ID:2312404
12052181	F7	coagulation factor VII	gene	DOID:9970	obesity		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased activity:plasma (human)	PMID:16739871|REF_RGD_ID:1625710
12052181	F7	coagulation factor VII	gene	DOID:9970	obesity		ISO	RGD:1345586	D	RGD:9068941	20200609	RGD		protein:increased activity:plasma (human)	PMID:19329212|REF_RGD_ID:2312379
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1319250	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30859559
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:0060413	chromosome 22q11.2 deletion syndrome, distal		ISO	RGD:1319250	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Chromosome 22q11.2 deletion syndrome, distal	PMID:31690835
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:0060436	chromosome 22q11.2 microduplication syndrome		ISO	RGD:1319250	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Chromosome 22q11.2 microduplication syndrome	PMID:25741868|PMID:31690835
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:0060578	Noonan syndrome 1		ISO	RGD:1319250	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Noonan syndrome 1	PMID:16356934|PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26467025|PMID:28492532|PMID:29346770|PMID:29469822|PMID:29493581|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30664951|PMID:30859559|PMID:31825158|PMID:33258288|PMID:33587123|PMID:33792302|PMID:35253369|PMID:35979676
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:0060580	Noonan syndrome 2		ISO	RGD:1319250	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Noonan syndrome 2 | ClinVar Annotator: match by term: Noonan syndrome autosomal recessive	PMID:16199547|PMID:17576681|PMID:23917401|PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:27921248|PMID:28135719|PMID:28191889|PMID:28492532|PMID:28749478|PMID:29384852|PMID:29409008|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30664951|PMID:30732632|PMID:30859559|PMID:31128261|PMID:31130284|PMID:31182298|PMID:31219622|PMID:31438995|PMID:31883238|PMID:32623905|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33792302|PMID:33897756|PMID:34113392|PMID:34645488|PMID:34645491|PMID:34853893|PMID:35258168|PMID:35391499|PMID:35726512|PMID:35979676|PMID:35982159|PMID:36113475|PMID:36307859|PMID:37936555|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:0060580	Noonan syndrome 2	susceptibility	ISO	RGD:1319250	D	RGD:7240710	20250108	OMIM			
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:0060588	Noonan syndrome 10		ISO	RGD:1319250	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: LZTR1-related disorder | ClinVar Annotator: match by term: Noonan syndrome 10	PMID:16199547|PMID:16356934|PMID:17576681|PMID:18948947|PMID:23917401|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25049390|PMID:25303977|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26467025|PMID:26803811|PMID:27921248|PMID:28017249|PMID:28191889|PMID:28492532|PMID:28749478|PMID:28973083|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29493581|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30859559|PMID:31130284|PMID:31169934|PMID:31182298|PMID:31219622|PMID:31475041|PMID:31825158|PMID:32041611|PMID:32310333|PMID:32981126|PMID:33258288|PMID:33413596|PMID:33587123|PMID:33792302|PMID:34113392|PMID:34184824|PMID:34645488|PMID:35251316|PMID:35253369|PMID:35258168|PMID:35391499|PMID:35726512|PMID:35979676|PMID:36360262|PMID:37600658|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:0060588	Noonan syndrome 10	susceptibility	ISO	RGD:1319250	D	RGD:7240710	20250108	OMIM			
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:0070481	schwannomatosis 2		ISO	RGD:1319250	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: LZTR1-related schwannomatosis | ClinVar Annotator: match by term: Schwannomatosis 2 | ClinVar Annotator: match by term: Schwannomatosis-2, susceptibility to	PMID:16199547|PMID:16356934|PMID:17576681|PMID:23917401|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25303977|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26467025|PMID:26803811|PMID:27921248|PMID:28017249|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28492532|PMID:28749478|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29493581|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:31044557|PMID:31128261|PMID:31130284|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31825158|PMID:31883238|PMID:32004086|PMID:32041611|PMID:32575496|PMID:32623905|PMID:32981126|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33258288|PMID:33407364|PMID:33413596|PMID:33587123|PMID:33792302|PMID:33897756|PMID:34113392|PMID:34184824|PMID:34645488|PMID:35251316|PMID:35253369|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35638454|PMID:35726512|PMID:35806449|PMID:35840934|PMID:35979676|PMID:35982159|PMID:36113475|PMID:36252119|PMID:36307859|PMID:36360262|PMID:37600658|PMID:37936555|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:0070481	schwannomatosis 2	susceptibility	ISO	RGD:1319250	D	RGD:7240710	20250108	OMIM			
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:0080174	bladder exstrophy		ISO	RGD:1319250	D	RGD:8554872	20240402	ClinVar		ClinVar Annotator: match by term: Bladder exstrophy	PMID:25741868|PMID:28492532|PMID:31044557
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:0080690	RASopathy		ISO	RGD:1319250	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: RASopathy	PMID:16356934|PMID:24362817|PMID:25303977|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26467025|PMID:27921248|PMID:28492532|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29493581|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:31182298|PMID:31825158|PMID:32981126|PMID:33258288|PMID:33587123|PMID:34184824|PMID:35253369|PMID:35979676
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1319250	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1	PMID:25741868
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:0112338	spermatogenic failure 57		ISO	RGD:1319250	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Male infertility with azoospermia or oligozoospermia due to single gene mutation	PMID:16356934|PMID:17576681|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26467025|PMID:28492532|PMID:29493581|PMID:30368668|PMID:30481304|PMID:30859559|PMID:33258288|PMID:33587123|PMID:34184824|PMID:35253369|PMID:35979676|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1319250	D	RGD:9068941	20220421	RGD		mRNA:altered expression:stomach, tumor (human)	PMID:29069277|REF_RGD_ID:151893464
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:1059	intellectual disability		ISO	RGD:1319250	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:11198	DiGeorge syndrome		ISO	RGD:1319250	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: DiGeorge syndrome	PMID:21921585|PMID:24826987|PMID:25205790|PMID:25516202|PMID:25860641|PMID:26805781|PMID:26805782|PMID:28492532|PMID:29500247|PMID:30245509|PMID:31690835|PMID:32581362
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:11372	megacolon		ISO	RGD:1319250	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Megacolon	PMID:21681106
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:1319250	D	RGD:8554872	20240611	ClinVar		ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy	
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1319250	D	RGD:9068941	20220415	RGD		DNA:missense mutation:c.1394C>T p.A465V, c.1330G>A p.D444N (human)	PMID:32004086|REF_RGD_ID:151708727
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:12583	velocardiofacial syndrome		ISO	RGD:1319250	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: 22q11.2 deletion syndrome | ClinVar Annotator: match by term: Velocardiofacial syndrome	PMID:25741868
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:12849	autistic disorder		ISO	RGD:1319250	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1319250	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868|PMID:28492532
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:1826	epilepsy		ISO	RGD:1319250	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Epilepsy	
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:3068	glioblastoma		ISO	RGD:1319250	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23917401
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:3068	glioblastoma		ISO	RGD:1319250	D	RGD:9068941	20220415	RGD		DNA:mutations:multiple (human)	PMID:23917401|REF_RGD_ID:151708722
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:3070	high grade glioma		ISO	RGD:1319250	D	RGD:8554872	20241126	ClinVar		ClinVar Annotator: match by term: Pediatric high-grade glioma	PMID:25741868
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:3192	neurilemmoma		ISO	RGD:1319250	D	RGD:9068941	20220414	RGD		DNA:missense mutation:cds,multiple (human)	PMID:24362817|REF_RGD_ID:151676717
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:3204	schwannomatosis		ISO	RGD:1319250	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Schwannomatosis	PMID:16199547|PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:27921248|PMID:28295212|PMID:28492532|PMID:29384852|PMID:29409008|PMID:29469822|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30665374|PMID:30859559|PMID:31128261|PMID:31130284|PMID:31182298|PMID:31219622|PMID:31438995|PMID:33084842|PMID:33413596|PMID:35251316|PMID:35391499
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:3490	Noonan syndrome		ISO	RGD:1319250	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Female pseudo-Turner syndrome | ClinVar Annotator: match by term: Noonan syndrome	PMID:16356934|PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26467025|PMID:28135719|PMID:28492532|PMID:29469822|PMID:29493581|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:32623905|PMID:33057194|PMID:33128510|PMID:33258288|PMID:33587123|PMID:35253369|PMID:35979676|PMID:35982159|PMID:36113475
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:3827	congenital diaphragmatic hernia		ISO	RGD:1319250	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Congenital diaphragmatic hernia	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:4586	familial meningioma		ISO	RGD:1319250	D	RGD:8554872	20240618	ClinVar		ClinVar Annotator: match by term: Familial multiple meningioma	PMID:25741868
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:5419	schizophrenia		ISO	RGD:1319250	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:1319250	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases	PMID:25741868
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:630	genetic disease		ISO	RGD:1319250	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1319250	D	RGD:9068941	20220421	RGD		DNA:missense mutation:cds, liver (human)	PMID:28622513|REF_RGD_ID:151893487
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9003145	Nuchal Bleb, Familial		ISO	RGD:1319250	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Fetal cystic hygroma	PMID:25741868|PMID:25795793|PMID:28492532|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:31825158
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1319250	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:18948947|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26467025|PMID:26803811|PMID:26901136|PMID:27472264|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28121514|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28594066|PMID:28749478|PMID:29146900|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31128261|PMID:31130284|PMID:31155615|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31527676|PMID:31533111|PMID:31825158|PMID:31883238|PMID:31911633|PMID:31980526|PMID:32004086|PMID:32041611|PMID:32059087|PMID:32310333|PMID:32371905|PMID:32443592|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32746448|PMID:33084842|PMID:33219631|PMID:33318624|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34079577|PMID:34113392|PMID:34136434|PMID:34184824|PMID:34401172|PMID:35391499|PMID:35453828|PMID:35806449|PMID:35813072|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:16199547|PMID:17576681|PMID:18948947|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26467025|PMID:26803811|PMID:26901136|PMID:27472264|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28121514|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28594066|PMID:28749478|PMID:28991257|PMID:29146900|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31128261|PMID:31130284|PMID:31155615|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31527676|PMID:31533111|PMID:31825158|PMID:31883238|PMID:31911633|PMID:31980526|PMID:32004086|PMID:32041611|PMID:32059087|PMID:32310333|PMID:32368696|PMID:32371905|PMID:32443592|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32746448|PMID:33084842|PMID:33219631|PMID:33318624|PMID:33407364|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34079577|PMID:34113392|PMID:34136434|PMID:34184824|PMID:34401172|PMID:35391499|PMID:35418823|PMID:35453828|PMID:35806449|PMID:35813072|PMID:35979676|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:16199547|PMID:17576681|PMID:18948947|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26467025|PMID:26803811|PMID:26901136|PMID:27472264|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28121514|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28594066|PMID:28749478|PMID:28991257|PMID:29146900|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31128261|PMID:31130284|PMID:31155615|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31527676|PMID:31533111|PMID:31825158|PMID:31883238|PMID:31911633|PMID:31980526|PMID:32004086|PMID:32041611|PMID:32059087|PMID:32310333|PMID:32368696|PMID:32371905|PMID:32443592|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32746448|PMID:33084842|PMID:33219631|PMID:33318624|PMID:33407364|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34079577|PMID:34113392|PMID:34136434|PMID:34184824|PMID:34401172|PMID:34853893|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35453828|PMID:35806449|PMID:35813072|PMID:35840934|PMID:35979676|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:18948947|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25741905|PMID:25795793|PMID:26260516|PMID:26467025|PMID:26803811|PMID:26901136|PMID:27472264|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28121514|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28594066|PMID:28749478|PMID:28991257|PMID:29146900|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31044557|PMID:31128261|PMID:31130284|PMID:31155615|PMID:31175295|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31527676|PMID:31533111|PMID:31825158|PMID:31883238|PMID:31911633|PMID:31980526|PMID:32004086|PMID:32041611|PMID:32059087|PMID:32310333|PMID:32368696|PMID:32371905|PMID:32443592|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32746448|PMID:33084842|PMID:33128510|PMID:33219631|PMID:33318624|PMID:33407364|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34079577|PMID:34113392|PMID:34136434|PMID:34184824|PMID:34401172|PMID:34645488|PMID:34853893|PMID:34958143|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35453828|PMID:35638454|PMID:35698239|PMID:35726512|PMID:35806449|PMID:35813072|PMID:35840934|PMID:35979676|PMID:36113475|PMID:36252119|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:16199547|PMID:17576681|PMID:18948947|PMID:23917401|PMID:23999291|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26260516|PMID:26467025|PMID:26803811|PMID:26901136|PMID:27472264|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28121514|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28594066|PMID:28749478|PMID:28991257|PMID:29146900|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29493581|PMID:29970176|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31044557|PMID:31128261|PMID:31130284|PMID:31155615|PMID:31175295|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31527676|PMID:31533111|PMID:31825158|PMID:31883238|PMID:31911633|PMID:31980526|PMID:32004086|PMID:32041611|PMID:32059087|PMID:32310333|PMID:32368696|PMID:32371905|PMID:32443592|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32746448|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33219631|PMID:33318624|PMID:33407364|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34079577|PMID:34113392|PMID:34136434|PMID:34184824|PMID:34401172|PMID:34645488|PMID:34853893|PMID:34958143|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35453828|PMID:35638454|PMID:35698239|PMID:35726512|PMID:35806449|PMID:35813072|PMID:35840934|PMID:35979676|PMID:35982159|PMID:36113475|PMID:36252119|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:18948947|PMID:23917401|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25303977|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26467025|PMID:26803811|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28749478|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29493581|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31044557|PMID:31128261|PMID:31130284|PMID:31175295|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31533111|PMID:31825158|PMID:31883238|PMID:32004086|PMID:32041611|PMID:32310333|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32981126|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33258288|PMID:33407364|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34113392|PMID:34184824|PMID:34645488|PMID:34645491|PMID:34853893|PMID:34958143|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35638454|PMID:35698239|PMID:35726512|PMID:35806449|PMID:35840934|PMID:35979676|PMID:35982159|PMID:36113475|PMID:36252119|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:18948947|PMID:23917401|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25303977|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26467025|PMID:26803811|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28749478|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29493581|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31044557|PMID:31128261|PMID:31130284|PMID:31175295|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31533111|PMID:31825158|PMID:31883238|PMID:32004086|PMID:32041611|PMID:32310333|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32981126|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33258288|PMID:33407364|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34113392|PMID:34184824|PMID:34645488|PMID:34645491|PMID:34853893|PMID:34958143|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35638454|PMID:35698239|PMID:35726512|PMID:35806449|PMID:35840934|PMID:35979676|PMID:35982159|PMID:36113475|PMID:36252119|PMID:36307859|PMID:36360262|PMID:37936555|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:18948947|PMID:23917401|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25303977|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26467025|PMID:26803811|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28749478|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29493581|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31044557|PMID:31128261|PMID:31130284|PMID:31175295|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31533111|PMID:31825158|PMID:31883238|PMID:32004086|PMID:32041611|PMID:32310333|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32981126|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33258288|PMID:33407364|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34113392|PMID:34184824|PMID:34645488|PMID:34645491|PMID:34853893|PMID:34958143|PMID:35251316|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35638454|PMID:35698239|PMID:35726512|PMID:35806449|PMID:35840934|PMID:35979676|PMID:35982159|PMID:36113475|PMID:36252119|PMID:36307859|PMID:36360262|PMID:37936555|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1319250	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:16199547|PMID:17576681|PMID:18948947|PMID:23917401|PMID:24033266|PMID:24362817|PMID:24448499|PMID:25008767|PMID:25049390|PMID:25303977|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:26467025|PMID:26803811|PMID:27856782|PMID:27921248|PMID:28017249|PMID:28135719|PMID:28191889|PMID:28295212|PMID:28365909|PMID:28492532|PMID:28749478|PMID:29346770|PMID:29384852|PMID:29409008|PMID:29469822|PMID:29489754|PMID:29493581|PMID:30006736|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30504930|PMID:30564305|PMID:30664951|PMID:30665374|PMID:30732632|PMID:30859559|PMID:30957677|PMID:31044557|PMID:31128261|PMID:31130284|PMID:31175295|PMID:31182298|PMID:31219622|PMID:31370276|PMID:31438995|PMID:31475041|PMID:31533111|PMID:31825158|PMID:31883238|PMID:32004086|PMID:32041611|PMID:32310333|PMID:32514133|PMID:32575496|PMID:32623905|PMID:32981126|PMID:33057194|PMID:33084842|PMID:33128510|PMID:33258288|PMID:33407364|PMID:33413596|PMID:33792302|PMID:33897756|PMID:34113392|PMID:34184824|PMID:34645488|PMID:34645491|PMID:34853893|PMID:34958143|PMID:35251316|PMID:35258168|PMID:35352813|PMID:35391499|PMID:35418823|PMID:35638454|PMID:35698239|PMID:35726512|PMID:35806449|PMID:35840934|PMID:35979676|PMID:35982159|PMID:36113475|PMID:36252119|PMID:36307859|PMID:36360262|PMID:37600658|PMID:37936555|PMID:9536098
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1319250	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:24362817|PMID:25335493|PMID:25480913|PMID:25741868|PMID:25795793|PMID:28492532|PMID:29384852|PMID:29409008|PMID:29469822|PMID:30368668|PMID:30442762|PMID:30442766|PMID:30481304|PMID:30859559|PMID:31182298
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9008386	Hydrops Fetalis		ISO	RGD:1319250	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Fetal edema	PMID:25303977|PMID:25741868|PMID:28492532|PMID:32981126|PMID:33258288
12052197	LZTR1	leucine zipper like post translational regulator 1	gene	DOID:9008582	Developmental Disease		ISO	RGD:1319250	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental disorder	PMID:24362817|PMID:25741868|PMID:27921248|PMID:28492532|PMID:29409008|PMID:31128261|PMID:31438995
12052222	SERPINE2	serpin family E member 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:70076	D	RGD:9068941	20200609	RGD			PMID:2813392|REF_RGD_ID:2317937
12052222	SERPINE2	serpin family E member 2	gene	DOID:10763	hypertension		ISO	RGD:3748	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:blood vessel	PMID:12524238|REF_RGD_ID:729767
12052222	SERPINE2	serpin family E member 2	gene	DOID:4724	brain edema		ISO	RGD:3748	D	RGD:9068941	20200609	RGD		associated with Cerebral Hemorrhage	PMID:18442833|REF_RGD_ID:2317927
12052222	SERPINE2	serpin family E member 2	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:3748	D	RGD:9068941	20200609	RGD			PMID:8261109|REF_RGD_ID:2317936
12052222	SERPINE2	serpin family E member 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:70076	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12052242	IGSF5	immunoglobulin superfamily member 5	gene	DOID:12849	autistic disorder		ISO	RGD:1352549	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
12052242	IGSF5	immunoglobulin superfamily member 5	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1352549	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12052265	NDRG4	NDRG family member 4	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:1353588	D	RGD:8554872	20230314	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy	PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059
12052265	NDRG4	NDRG family member 4	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:1353588	D	RGD:8554872	20230314	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059
12052265	NDRG4	NDRG family member 4	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1353588	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:11285252|PMID:20177705|PMID:24608809|PMID:26518167|PMID:28492532|PMID:28747448|PMID:30866059
12052265	NDRG4	NDRG family member 4	gene	DOID:224	transient cerebral ischemia		ISO	RGD:1332043	D	RGD:9068941	20200609	RGD			PMID:21636852|REF_RGD_ID:7247728
12052265	NDRG4	NDRG family member 4	gene	DOID:3068	glioblastoma		ISO	RGD:1353588	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:brain	PMID:22489821|REF_RGD_ID:7247726
12052265	NDRG4	NDRG family member 4	gene	DOID:3070	high grade glioma	disease_progression	ISO	RGD:1353588	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain	PMID:22399192|REF_RGD_ID:7247727
12052265	NDRG4	NDRG family member 4	gene	DOID:687	hepatoblastoma		ISO	RGD:1353588	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hepatoblastoma	
12052265	NDRG4	NDRG family member 4	gene	DOID:9008870	Chromosome 16q12 Duplication Syndrome		ISO	RGD:1353588	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome	PMID:25741868
12052293	NOVA2	NOVA alternative splicing regulator 2	gene	DOID:1059	intellectual disability		ISO	RGD:1317566	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: Intellectual disability, severe	PMID:25167861|PMID:32197073
12052293	NOVA2	NOVA alternative splicing regulator 2	gene	DOID:630	genetic disease		ISO	RGD:1317566	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12052293	NOVA2	NOVA alternative splicing regulator 2	gene	DOID:9001712	Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities		ISO	RGD:1317566	D	RGD:7240710	20200812	OMIM			
12052293	NOVA2	NOVA alternative splicing regulator 2	gene	DOID:9001712	Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities		ISO	RGD:1317566	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: NOVA2-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities	PMID:25167861|PMID:25741868|PMID:32197073
12052301	GLRX5	glutaredoxin 5	gene	DOID:0060065	autosomal recessive pyridoxine-refractory sideroblastic anemia 2		ISO	RGD:1318119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12052301	GLRX5	glutaredoxin 5	gene	DOID:0080343	autosomal recessive pyridoxine-refractory sideroblastic anemia 3		ISO	RGD:1318119	D	RGD:7240710	20190315	OMIM			
12052301	GLRX5	glutaredoxin 5	gene	DOID:0080343	autosomal recessive pyridoxine-refractory sideroblastic anemia 3		ISO	RGD:1318119	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sideroblastic anemia 3	PMID:17485548|PMID:20364084|PMID:25342667|PMID:25741868|PMID:26100117|PMID:30660387
12052301	GLRX5	glutaredoxin 5	gene	DOID:8955	sideroblastic anemia		ISO	RGD:1318119	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18637800
12052301	GLRX5	glutaredoxin 5	gene	DOID:9001337	Childhood-Onset Spasticity with Hyperglycinemia		ISO	RGD:1318119	D	RGD:7240710	20190315	OMIM			
12052301	GLRX5	glutaredoxin 5	gene	DOID:9001337	Childhood-Onset Spasticity with Hyperglycinemia		ISO	RGD:1318119	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: GLRX5-related condition | ClinVar Annotator: match by term: Spasticity, childhood-onset, with hyperglycinemia	PMID:24334290|PMID:25741868|PMID:28492532
12052320	NRARP	NOTCH regulated ankyrin repeat protein	gene	DOID:0060352	Kleefstra syndrome 1		ISO	RGD:1604888	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Kleefstra syndrome 1	PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758
12052320	NRARP	NOTCH regulated ankyrin repeat protein	gene	DOID:0070038	autosomal dominant intellectual developmental disorder 8		ISO	RGD:1604888	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532
12052320	NRARP	NOTCH regulated ankyrin repeat protein	gene	DOID:0070244	primary coenzyme Q10 deficiency 7		ISO	RGD:1604888	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	PMID:28492532
12052320	NRARP	NOTCH regulated ankyrin repeat protein	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1604888	D	RGD:8554872	20230314	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14	PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532
12052320	NRARP	NOTCH regulated ankyrin repeat protein	gene	DOID:0081097	Rafiq syndrome		ISO	RGD:1604888	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Rafiq syndrome	PMID:24566669|PMID:28492532|PMID:30982612
12052320	NRARP	NOTCH regulated ankyrin repeat protein	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1604888	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis	PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532
12052320	NRARP	NOTCH regulated ankyrin repeat protein	gene	DOID:1826	epilepsy		ISO	RGD:1604888	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Epilepsy	
12052320	NRARP	NOTCH regulated ankyrin repeat protein	gene	DOID:9005781	Adams-Oliver Syndrome 5		ISO	RGD:1604888	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Adams-Oliver syndrome 5	PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532
12052320	NRARP	NOTCH regulated ankyrin repeat protein	gene	DOID:9007502	Brain Neoplasms		ISO	RGD:1604888	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21127729
12052335	DOCK10	dedicator of cytokinesis 10	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1348168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12052335	DOCK10	dedicator of cytokinesis 10	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1348168	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12052429	PCDH17	protocadherin 17	gene	DOID:0060391	chromosome 13q14 deletion syndrome		ISO	RGD:1312379	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome	
12052439	CDK9	cyclin dependent kinase 9	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:1346548	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy	PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935|PMID:34172529
12052439	CDK9	cyclin dependent kinase 9	gene	DOID:0050902	medulloblastoma		ISO	RGD:1346548	D	RGD:9068941	20210604	CTD		CTD Direct Evidence: marker/mechanism	PMID:31594641
12052439	CDK9	cyclin dependent kinase 9	gene	DOID:0070244	primary coenzyme Q10 deficiency 7		ISO	RGD:1346548	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935
12052439	CDK9	cyclin dependent kinase 9	gene	DOID:0080437	developmental and epileptic encephalopathy 31A		ISO	RGD:1346548	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31	PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:34172529
12052439	CDK9	cyclin dependent kinase 9	gene	DOID:0080571	congenital disorder of glycosylation Iu		ISO	RGD:1346548	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: CDG Iu | ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u	PMID:23109149|PMID:28492532
12052439	CDK9	cyclin dependent kinase 9	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:1346548	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935|PMID:34172529
12052439	CDK9	cyclin dependent kinase 9	gene	DOID:543	dystonia		ISO	RGD:1346548	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:28492532
12052439	CDK9	cyclin dependent kinase 9	gene	DOID:6000	congestive heart failure		ISO	RGD:1346548	D	RGD:9068941	20200609	RGD		protein:increased activity:ventricle:	PMID:15297879|REF_RGD_ID:1556509
12052439	CDK9	cyclin dependent kinase 9	gene	DOID:6000	congestive heart failure		ISO	RGD:1552365	D	RGD:9068941	20200609	RGD		protein:increased activity:heart:	PMID:15297879|REF_RGD_ID:1556509
12052439	CDK9	cyclin dependent kinase 9	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1359638	D	RGD:9068941	20200609	RGD		mRNA,protein:decreased expression:liver:	PMID:20828602|REF_RGD_ID:9698426
12052506	LOC102157295	atherin	gene	DOID:0060019	coronin-1A deficiency		ISO	RGD:735815	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 8	PMID:18836449|PMID:25073507|PMID:28492532
12052506	LOC102157295	atherin	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:735815	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:18184952|PMID:25255310
12052506	LOC102157295	atherin	gene	DOID:0060430	chromosome 16p11.2 duplication syndrome		ISO	RGD:735815	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome	PMID:31690835
12052506	LOC102157295	atherin	gene	DOID:0070515	chromosome 16p11.2 deletion syndrome, 593-kb		ISO	RGD:735815	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome	PMID:25741868
12052506	LOC102157295	atherin	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:735815	D	RGD:8554872	20220614	ClinVar		ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES	PMID:25741868
12052506	LOC102157295	atherin	gene	DOID:12849	autistic disorder		ISO	RGD:735815	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
12052506	LOC102157295	atherin	gene	DOID:2634	cystadenoma		ISO	RGD:735815	D	RGD:9068941	20220210	RGD		protein:increased expression:pancreas	PMID:19077459|REF_RGD_ID:2325696
12052506	LOC102157295	atherin	gene	DOID:5419	schizophrenia		ISO	RGD:735815	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
12052506	LOC102157295	atherin	gene	DOID:630	genetic disease		ISO	RGD:735815	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12052506	LOC102157295	atherin	gene	DOID:9006153	Glycogen Storage Disease XII		ISO	RGD:735815	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: ALDOA-related condition | ClinVar Annotator: match by term: GLYCOGEN STORAGE DISEASE XII | ClinVar Annotator: match by term: GSD XII | ClinVar Annotator: match by term: Red cell aldolase deficiency	PMID:14615364|PMID:16199547|PMID:17576681|PMID:25392908|PMID:25741868|PMID:2825199|PMID:28492532|PMID:33665120|PMID:8598869|PMID:9536098
12052506	LOC102157295	atherin	gene	DOID:9869	hereditary fructose intolerance syndrome		ISO	RGD:10139	D	RGD:9068941	20220210	RGD			PMID:25637246|REF_RGD_ID:13673876
12052522	PCDHAC1	protocadherin alpha subfamily C, 1	gene	DOID:0070061	autosomal dominant intellectual developmental disorder 31		ISO	RGD:1353050	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	PMID:28492532
12052522	PCDHAC1	protocadherin alpha subfamily C, 1	gene	DOID:0080409	familial adenomatous polyposis 1		ISO	RGD:1353050	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Familial adenomatous polyposis 1	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
12052522	PCDHAC1	protocadherin alpha subfamily C, 1	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1353050	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hirschsprung disease, susceptibility to, 1	PMID:25741868
12052522	PCDHAC1	protocadherin alpha subfamily C, 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1353050	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12052522	PCDHAC1	protocadherin alpha subfamily C, 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1353050	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:0014667	disease of metabolism		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19589179
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:0050440	familial partial lipodystrophy		ISO	RGD:69168	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Familial partial lipodystrophy	PMID:21479595|PMID:25741868|PMID:28492532|PMID:28641778|PMID:32041611|PMID:33502018|PMID:34991302|PMID:36397776
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:0050850	diabetic encephalopathy	treatment	ISO	RGD:3371	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:24291733|REF_RGD_ID:8553040
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:0050851	glomerulosclerosis	treatment	ISO	RGD:3371	D	RGD:9068941	20200609	RGD			PMID:11318962|REF_RGD_ID:8553043
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:0060318	acute promyelocytic leukemia		ISO	RGD:69168	D	RGD:9068941	20220310	CTD		CTD Direct Evidence: marker/mechanism	PMID:32929351
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:0060611	abdominal obesity-metabolic syndrome		ISO	RGD:69169	D	RGD:9068941	20220825	MouseDO			
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:0070204	familial partial lipodystrophy type 3		ISO	RGD:69168	D	RGD:7240710	20180912	OMIM			
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:0070204	familial partial lipodystrophy type 3		ISO	RGD:69168	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: PPARG-related familial partial lipodystrophy	PMID:10381354|PMID:10523018|PMID:10622252|PMID:10690291|PMID:10851250|PMID:11788685|PMID:12453919|PMID:12663460|PMID:14569127|PMID:14616762|PMID:14671186|PMID:15254591|PMID:17003330|PMID:17299075|PMID:17356052|PMID:21479595|PMID:22461176|PMID:22539598|PMID:25157153|PMID:25741868|PMID:27749844|PMID:28492532|PMID:28641778|PMID:32041611|PMID:33502018|PMID:34991302|PMID:36397776|PMID:38951919|PMID:9467001|PMID:9792554
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:69168	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:35654975
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:0080322	polycystic kidney disease	treatment	ISO	RGD:3371	D	RGD:9068941	20200609	RGD			PMID:21147840|REF_RGD_ID:14701037
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:0080600	COVID-19		ISO	RGD:69168	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:0081120	Graves ophthalmopathy		ISO	RGD:69168	D	RGD:9068941	20200609	RGD		mRNA:increased expression:orbital fat (human)	PMID:14588098|REF_RGD_ID:8552818
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:0081312	T-cell non-Hodgkin lymphoma		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17255338
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:69168	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:0111136	congenital generalized lipodystrophy type 2		ISO	RGD:69169	D	RGD:9068941	20220825	MouseDO		OMIM:269700	
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:10591	pre-eclampsia		ISO	RGD:69168	D	RGD:9068941	20200609	RGD			PMID:15562025|REF_RGD_ID:1580687
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:10591	pre-eclampsia		ISO	RGD:69168	D	RGD:9068941	20220811	CTD		CTD Direct Evidence: marker/mechanism	PMID:34995009
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:10652	Alzheimer's disease		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15993441|PMID:16407166|PMID:30328325
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:10652	Alzheimer's disease	no_association	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple (human)	PMID:18573313|REF_RGD_ID:2301852
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:10652	Alzheimer's disease	susceptibility	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		DNA:SNP:cds:p.P12A(human)	PMID:17440948|REF_RGD_ID:2311642
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:1074	kidney failure		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28182703
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:10763	hypertension		ISO	RGD:3371	D	RGD:9068941	20200609	RGD			PMID:15970297|PMID:18437150|REF_RGD_ID:1580684|REF_RGD_ID:2301888
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:10763	hypertension		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		protein:decreased expression:rostral ventrolateral medulla (rat)	PMID:20404217|REF_RGD_ID:7175297
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:10763	hypertension		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:15199296|PMID:19666838|PMID:27292124
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:10763	hypertension		ISO	RGD:69168	D	RGD:9068941	20200609	RGD			PMID:12923396|REF_RGD_ID:1580690
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:10763	hypertension		ISO	RGD:69168	D	RGD:9068941	20200609	RGD		human gene in a mouse model	PMID:18316027|REF_RGD_ID:2301864
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:11054	urinary bladder cancer		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		protein:decreased expression:urinary bladder	PMID:18712722|REF_RGD_ID:2301870
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:11382	corneal neovascularization	treatment	ISO	RGD:69169	D	RGD:9068941	20200609	RGD			PMID:17625041|REF_RGD_ID:8552895
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:11613	hyperandrogenism		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:ovary follicle (rat)	PMID:20813360|REF_RGD_ID:8553031
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:11981	morbid obesity		ISO	RGD:69168	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Morbid obesity	PMID:10690291|PMID:25157153|PMID:28492532|PMID:9753710
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:1287	cardiovascular system disease	susceptibility	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		associated with Diabetic Nephropathies; DNA:polymorphisms:exon:161C>T, p.P12A (human)	PMID:18417957|REF_RGD_ID:2301860
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:12935	alcoholic cardiomyopathy		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		protein:increased expression:heart myocardium	PMID:18783396|REF_RGD_ID:2301868
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:12986	leukostasis		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12468449
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:13207	proliferative diabetic retinopathy	onset	ISO	RGD:69168	D	RGD:9068941	20200609	RGD			PMID:18541841|REF_RGD_ID:2301854
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:13207	proliferative diabetic retinopathy	susceptibility	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		DNA:snp:cds:p.P12A (rs1801282) (human)	PMID:23559865|REF_RGD_ID:8552820
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:13207	proliferative diabetic retinopathy	susceptibility	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;DNA:snp:promoter:c.-2819A>G (human)	PMID:19125195|REF_RGD_ID:8699508
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:14557	primary pulmonary hypertension		ISO	RGD:69169	D	RGD:9068941	20220825	MouseDO		OMIM:178600 | OMIM:265400 | OMIM:615342 | OMIM:615343 | OMIM:615344	
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:1520	colon carcinoma		ISO	RGD:69168	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Carcinoma of colon | ClinVar Annotator: match by term: Colon carcinoma	PMID:10394368|PMID:25741868
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:1561	cognitive disorder	susceptibility	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :p.P12A (human)	PMID:18639367|REF_RGD_ID:2301850
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:1793	pancreatic cancer		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:11034103|PMID:11741176
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:1793	pancreatic cancer		ISO	RGD:69168	D	RGD:9068941	20200609	RGD			PMID:19152448|REF_RGD_ID:2317462
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:1793	pancreatic cancer	susceptibility	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.P12A (human)	PMID:19436234|REF_RGD_ID:2317460
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:1909	melanoma		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:14512786|PMID:28962521
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:1936	atherosclerosis		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18269830
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:1936	atherosclerosis		ISO	RGD:69169	D	RGD:9068941	20200609	RGD		protein:increased expression:aortic sinus, endothelium (mouse)	PMID:15779851|REF_RGD_ID:8552894
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:219	colon cancer		ISO	RGD:69168	D	RGD:9068941	20200609	RGD		DNA:frameshift mutation:c.472delA (human)	PMID:10394368|REF_RGD_ID:1601444
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:224	transient cerebral ischemia		ISO	RGD:3371	D	RGD:9068941	20200609	RGD			PMID:18378216|PMID:18973594|PMID:19221220|REF_RGD_ID:2301866|REF_RGD_ID:2301892|REF_RGD_ID:8553032
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:2349	arteriosclerosis	treatment	ISO	RGD:3371	D	RGD:9068941	20200609	RGD			PMID:15967870|REF_RGD_ID:8553041
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:2921	glomerulonephritis		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:11318962
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:2988	antiphospholipid syndrome		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28182703
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:299	adenocarcinoma		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11034103
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:3021	acute kidney failure		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:20623750|PMID:24011919|PMID:24433871
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:3021	acute kidney failure	treatment	ISO	RGD:3371	D	RGD:9068941	20200609	RGD			PMID:17494862|REF_RGD_ID:8553020
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:3068	glioblastoma		ISO	RGD:69168	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Glioblastoma, somatic	PMID:10381354|PMID:10523018|PMID:10690291|PMID:10851250|PMID:14569127|PMID:14616762|PMID:14671186|PMID:25741868|PMID:28492532|PMID:9467001
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:3070	high grade glioma		ISO	RGD:69168	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Glioma susceptibility 1	PMID:10381354|PMID:10523018|PMID:10690291|PMID:10851250|PMID:14569127|PMID:14616762|PMID:14671186|PMID:25741868|PMID:28492532|PMID:9467001
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:326	ischemia		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12468449|PMID:24433871
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:3393	coronary artery disease		ISO	RGD:69168	D	RGD:9068941	20200609	RGD		protein:decreased expression:carotid artery, macrophage, smooth muscle cell (human)	PMID:21709632|REF_RGD_ID:8552814
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:3407	carotid artery disease		ISO	RGD:69168	D	RGD:9068941	20200609	RGD			PMID:15284449|REF_RGD_ID:1580688
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:3587	pancreatic ductal carcinoma	disease_progression	ISO	RGD:69168	D	RGD:9068941	20200609	RGD			PMID:19396032|REF_RGD_ID:2317461
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:3946	pituitary-dependent Cushing's disease		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16809932
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:4989	pancreatitis		ISO	RGD:3371	D	RGD:9068941	20200609	RGD			PMID:18583255|REF_RGD_ID:2301875
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:6000	congestive heart failure		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26670611
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:630	genetic disease		ISO	RGD:69168	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16374840
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver	PMID:27451128|REF_RGD_ID:14694822
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:783	end stage renal disease	disease_progression	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Insulin-Dependent;DNA:SNP: :p.P12A (human)	PMID:18467141|REF_RGD_ID:2301857
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:811	lipodystrophy		ISO	RGD:69168	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Lipodystrophy	PMID:10622252|PMID:12663460|PMID:15254591|PMID:17003330|PMID:22461176|PMID:22539598|PMID:25157153|PMID:25741868|PMID:28492532
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:8398	osteoarthritis		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17568789
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:8778	Crohn's disease		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21829567
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:8893	psoriasis		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:10815854
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:8947	diabetic retinopathy		ISO	RGD:69169	D	RGD:9068941	20200609	RGD		Retinal Leukostasis;associated with Diabetes Mellitus, Experimental	PMID:17003451|REF_RGD_ID:8552824
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20210794
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:69168	D	RGD:9068941	20200609	RGD		associated with Cholangiocarcinoma;protein:increased expression:bile duct epithelium	PMID:20021832|REF_RGD_ID:2317459
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9000173	Eye Burns		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		protein:increased expression:cornea, neutrophil, macrophage (rat)	PMID:24194635|REF_RGD_ID:8552904
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:15492468|PMID:19140230
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29162556
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9000641	Pain		ISO	RGD:3371	D	RGD:9068941	20200609	RGD			PMID:18387855|REF_RGD_ID:2301890
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9000784	Fibrosis		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		associated with Hypertension	PMID:18360056|REF_RGD_ID:2301893
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9000784	Fibrosis		ISO	RGD:69169	D	RGD:9068941	20200609	RGD			PMID:18511847|REF_RGD_ID:2301856
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9000927	Alveolar Bone Loss	treatment	ISO	RGD:3371	D	RGD:9068941	20230720	RGD		associated with hypertension, periodontal disease	PMID:33364953|REF_RGD_ID:329956421
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:3371	D	RGD:9068941	20200609	RGD			PMID:18594976|REF_RGD_ID:2301874
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9001573	Experimental Liver Cirrhosis	treatment	ISO	RGD:3371	D	RGD:9068941	20200609	RGD			PMID:22529699|REF_RGD_ID:8553190
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9002055	Chronic Allograft Nephropathy		ISO	RGD:69168	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney:	PMID:16221712|REF_RGD_ID:13208600
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Non-Insulin-Dependent	PMID:18388116|REF_RGD_ID:2301862
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28182703
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:69169	D	RGD:9068941	20200609	RGD			PMID:18780770|REF_RGD_ID:2301845
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:lung (rat)	PMID:21425435|REF_RGD_ID:8552971
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9002311	Experimental Autoimmune Myocarditis		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		protein:increased expression:myocardium (rat)	PMID:15167281|REF_RGD_ID:8553039
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9002909	Oxygen-Induced Retinopathy		ISO	RGD:69169	D	RGD:9068941	20200609	RGD		protein:decreased expression:retina (mouse)	PMID:18806296|REF_RGD_ID:2301844
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20540935
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:18289512
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9003370	Dyslipidemias		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16168052
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9003657	Perennial Allergic Rhinitis		ISO	RGD:69168	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:nasal mucosa (human)	PMID:17116814|REF_RGD_ID:8552811
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12468449|PMID:24011919|PMID:24433871
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15785241
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		protein:decreased expression:lung (rat)	PMID:16083301|REF_RGD_ID:8553030
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:21153920
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		associated with Hypertension	PMID:18360056|REF_RGD_ID:2301893
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9004980	Chronobiology Disorders		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22899986
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9005372	Inflammation		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		associated with Brain Injuries	PMID:18479673|REF_RGD_ID:2301881
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9005372	Inflammation		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		associated with Status Epilepticus	PMID:18455351|REF_RGD_ID:2301886
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9005372	Inflammation		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:19926821|PMID:21354099
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		mRNA:altered expression:aorta, kidney cortex, retina	PMID:18641696|REF_RGD_ID:2301849
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12967931|PMID:16123366|PMID:21757225
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:69169	D	RGD:9068941	20200609	RGD		protein:decreased expression:retina	PMID:18806296|REF_RGD_ID:2301844
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9005782	Carotid Intimal Medial Thickness 1		ISO	RGD:69168	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Carotid intimal medial thickness 1 | ClinVar Annotator: match by term: INTIMAL MEDIAL THICKNESS OF INTERNAL CAROTID ARTERY	PMID:25741868|PMID:27749844|PMID:28492532
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9005930	Endotoxemia		ISO	RGD:3371	D	RGD:9068941	20200609	RGD		protein:increased expression:small intestine mucosa	PMID:21641970|REF_RGD_ID:5135029
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9006182	Carotid Artery Injuries	treatment	ISO	RGD:69169	D	RGD:9068941	20200609	RGD		mouse gene in a rat model	PMID:19339015|REF_RGD_ID:8553019
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9006447	Eye Injuries	treatment	ISO	RGD:69169	D	RGD:9068941	20200609	RGD			PMID:18658087|REF_RGD_ID:8552893
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9006494	Follicular Thyroid Cancer		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15785241
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:3371	D	RGD:9068941	20200609	RGD			PMID:16183630|REF_RGD_ID:1580683
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:69168	D	RGD:9068941	20200609	RGD			PMID:16186413|REF_RGD_ID:1580686
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9006646	Metabolic Syndrome	ameliorates	ISO	RGD:69169	D	RGD:9068941	20231026	RGD			PMID:31353547|REF_RGD_ID:401850595
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9006646	Metabolic Syndrome	no_association	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		DNA:SNP: :p.P12A (human)	PMID:18959602|REF_RGD_ID:2301843
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20143881
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:69169	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:liver	PMID:26599535|REF_RGD_ID:11554658
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9007692	Insulin Resistance		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16168052|PMID:21354099|PMID:21484566
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9007692	Insulin Resistance		ISO	RGD:69168	D	RGD:9068941	20200609	RGD		DNA:nonsense mutation	PMID:12118251|REF_RGD_ID:1601446
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:69169	D	RGD:9068941	20200609	RGD			PMID:18562925|REF_RGD_ID:2301853
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16489531
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:69169	D	RGD:9068941	20220825	MouseDO		OMIM:152700 | OMIM:300809 | OMIM:601744 | OMIM:605218 | OMIM:605480 | OMIM:608437 | OMIM:609903 | OMIM:609939 | OMIM:610065 | OMIM:610066 | OMIM:610927 | OMIM:612251 | OMIM:612253 | OMIM:612254 | OMIM:612378 | OMIM:613145 | OMIM:614420	
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9206	Barrett's esophagus		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15387324
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9351	diabetes mellitus		ISO	RGD:69168	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Monogenic diabetes	PMID:19748282|PMID:25741868|PMID:27749844|PMID:28492532
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69168	D	RGD:7240710	20180130	OMIM			
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69168	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension | ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:10381354|PMID:10523018|PMID:10622252|PMID:10690291|PMID:10851250|PMID:14569127|PMID:14616762|PMID:14671186|PMID:15254591|PMID:22461176|PMID:25157153|PMID:25741868|PMID:28492532|PMID:9467001|PMID:9792554
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69168	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension | ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:10381354|PMID:10523018|PMID:10690291|PMID:10851250|PMID:14569127|PMID:14616762|PMID:14671186|PMID:25741868|PMID:28492532|PMID:9467001|PMID:9792554
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:69168	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus, noninsulin-dependent, late onset | ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25741868|PMID:28492532
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		DNA:snp:cds:p.P12A (human)	PMID:9918859|REF_RGD_ID:8552822
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9352	type 2 diabetes mellitus	susceptibility	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.P12A (human)	PMID:18598350|REF_RGD_ID:2301851
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9452	steatotic liver disease		ISO	RGD:3371	D	RGD:9068941	20200609	RGD			PMID:15112352|REF_RGD_ID:1580685
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9452	steatotic liver disease	treatment	ISO	RGD:3371	D	RGD:9068941	20240201	RGD			PMID:30298849|REF_RGD_ID:401960083
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9455	lipid storage disease		ISO	RGD:69168	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21123845
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9970	obesity		ISO	RGD:69168	D	RGD:7240710	20180130	OMIM			
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9970	obesity		ISO	RGD:69168	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity due to SIM1 deficiency	PMID:10381354|PMID:10523018|PMID:10622252|PMID:10690291|PMID:10851250|PMID:14569127|PMID:14616762|PMID:14671186|PMID:15254591|PMID:22461176|PMID:25157153|PMID:25741868|PMID:28492532|PMID:9467001|PMID:9792554
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9970	obesity		ISO	RGD:69168	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Monogenic Obesity | ClinVar Annotator: match by term: Obesity | ClinVar Annotator: match by term: Obesity disorder	PMID:10381354|PMID:10523018|PMID:10690291|PMID:10851250|PMID:14569127|PMID:14616762|PMID:14671186|PMID:25741868|PMID:28492532|PMID:9467001|PMID:9792554
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9970	obesity	susceptibility	ISO	RGD:69168	D	RGD:9068941	20200609	RGD		DNA:polymorphism	PMID:18683148|REF_RGD_ID:2301847
12052559	PPARG	peroxisome proliferator activated receptor gamma	gene	DOID:9970	obesity	treatment	ISO	RGD:3371	D	RGD:9068941	20240201	RGD			PMID:30298849|REF_RGD_ID:401960083
12052585	TJP1	tight junction protein 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1314849	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12052585	TJP1	tight junction protein 1	gene	DOID:0060393	chromosome 15q11.2 deletion syndrome		ISO	RGD:1314849	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome	PMID:31690835
12052585	TJP1	tight junction protein 1	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease	treatment	ISO	RGD:1306305	D	RGD:9068941	20240801	RGD			PMID:23277536|REF_RGD_ID:407424596
12052585	TJP1	tight junction protein 1	gene	DOID:1059	intellectual disability		ISO	RGD:1314849	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868
12052585	TJP1	tight junction protein 1	gene	DOID:10825	essential hypertension		ISO	RGD:1314849	D	RGD:9068941	20221110	CTD		CTD Direct Evidence: marker/mechanism	PMID:34453990
12052585	TJP1	tight junction protein 1	gene	DOID:12849	autistic disorder		ISO	RGD:1314849	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Autism | ClinVar Annotator: match by term: Autistic disorder | ClinVar Annotator: match by term: Chromosome 15q11-q13 duplication syndrome	PMID:21681106|PMID:30208311|PMID:31690835
12052585	TJP1	tight junction protein 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1314849	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:25741868
12052585	TJP1	tight junction protein 1	gene	DOID:13141	uveitis		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD		protein:decreased expression, altered localization: corneal endothelium	PMID:18587491|REF_RGD_ID:2325139
12052585	TJP1	tight junction protein 1	gene	DOID:13580	cholestasis		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:18197414|REF_RGD_ID:2325141
12052585	TJP1	tight junction protein 1	gene	DOID:13976	peptic esophagitis		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD			PMID:19653339|REF_RGD_ID:2325133
12052585	TJP1	tight junction protein 1	gene	DOID:1932	Angelman syndrome		ISO	RGD:1314849	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Angelman syndrome	
12052585	TJP1	tight junction protein 1	gene	DOID:2316	brain ischemia		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain	PMID:19712057|REF_RGD_ID:2325131
12052585	TJP1	tight junction protein 1	gene	DOID:4606	bile duct cancer		ISO	RGD:1314849	D	RGD:9068941	20200609	RGD		protein:decreased expression:bile duct	PMID:19184677|REF_RGD_ID:2325030
12052585	TJP1	tight junction protein 1	gene	DOID:4948	gallbladder carcinoma		ISO	RGD:1314849	D	RGD:9068941	20200609	RGD		protein:decreased expression:gallbladder	PMID:19184677|REF_RGD_ID:2325030
12052585	TJP1	tight junction protein 1	gene	DOID:5419	schizophrenia		ISO	RGD:1314849	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
12052585	TJP1	tight junction protein 1	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:19390485|REF_RGD_ID:2317627
12052585	TJP1	tight junction protein 1	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD		protein:altered localization	PMID:18854840|REF_RGD_ID:2325137
12052585	TJP1	tight junction protein 1	gene	DOID:9000641	Pain		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD		associated with Inflammation;protein:increased expression:brain	PMID:19319146|REF_RGD_ID:2325136
12052585	TJP1	tight junction protein 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD			PMID:19889224|REF_RGD_ID:2325128
12052585	TJP1	tight junction protein 1	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD			PMID:18848892|REF_RGD_ID:2325138
12052585	TJP1	tight junction protein 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD			PMID:19929946|REF_RGD_ID:2325127
12052585	TJP1	tight junction protein 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD		protein:decreased expression:brain, endothelial cell	PMID:19374856|REF_RGD_ID:2325135
12052585	TJP1	tight junction protein 1	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD		protein:decreased expression:glomerulus	PMID:16567508|REF_RGD_ID:2325150
12052585	TJP1	tight junction protein 1	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1314850	D	RGD:9068941	20200609	RGD		protein:decreased expression:glomerulus	PMID:16567508|REF_RGD_ID:2325150
12052585	TJP1	tight junction protein 1	gene	DOID:936	brain disease		ISO	RGD:1306305	D	RGD:9068941	20200609	RGD		associate with Pancreatitis, Acute Necrotizing	PMID:19712057|REF_RGD_ID:2325131
12052613	RDH16	retinol dehydrogenase 16	gene	DOID:0110173	Charcot-Marie-Tooth disease axonal type 2U		ISO	RGD:1604846	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U	PMID:28492532
12052613	RDH16	retinol dehydrogenase 16	gene	DOID:0110251	cataract 15 multiple types		ISO	RGD:1604846	D	RGD:8554872	20240716	ClinVar		ClinVar Annotator: match by term: Cataract 15 multiple types	PMID:28492532
12052613	RDH16	retinol dehydrogenase 16	gene	DOID:607	paraplegia		ISO	RGD:1604846	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:28492532
12052613	RDH16	retinol dehydrogenase 16	gene	DOID:9002394	INTERSTITIAL LUNG AND LIVER DISEASE		ISO	RGD:1604846	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Interstitial lung and liver disease	PMID:28492532
12052639	GCC2	GRIP and coiled-coil domain containing 2	gene	DOID:0111199	autosomal dominant distal hereditary motor neuronopathy 7		ISO	RGD:1605713	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neuronopathy, distal hereditary motor, type 7A	PMID:28492532
12052639	GCC2	GRIP and coiled-coil domain containing 2	gene	DOID:0111663	ectodermal dysplasia 10A		ISO	RGD:1605713	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic	PMID:10431241|PMID:10431242|PMID:18854857|PMID:20979233|PMID:28492532|PMID:28981473
12052639	GCC2	GRIP and coiled-coil domain containing 2	gene	DOID:0111665	ectodermal dysplasia 10B		ISO	RGD:1605713	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Autosomal recessive hypohidrotic ectodermal dysplasia	PMID:10431241|PMID:10431242|PMID:18854857|PMID:20979233|PMID:28492532|PMID:28981473
12052639	GCC2	GRIP and coiled-coil domain containing 2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1605713	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Progressive sensorineural hearing impairment	PMID:27876815
12052639	GCC2	GRIP and coiled-coil domain containing 2	gene	DOID:9003471	ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3		ISO	RGD:1605713	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Encephalopathy, acute, infection-induced, 3, suceptibility to	PMID:10431241|PMID:10431242|PMID:18854857|PMID:20979233|PMID:28492532|PMID:28981473
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:1826	epilepsy		ISO	RGD:1314539	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:26424145|PMID:26437029|PMID:28492532|PMID:32581362
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:630	genetic disease		ISO	RGD:1314539	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:769	neuroblastoma		ISO	RGD:1314539	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941191
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:9005075	Spastic Paraplegia and Psychomotor Retardation with or without Seizures		ISO	RGD:1314539	D	RGD:7240710	20190315	OMIM			
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:9005075	Spastic Paraplegia and Psychomotor Retardation with or without Seizures		ISO	RGD:1314539	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: HACE1-related condition | ClinVar Annotator: match by term: Spastic paraplegia and psychomotor retardation with or without seizures	PMID:25741868|PMID:26424145|PMID:26437029|PMID:28492532|PMID:30202406|PMID:32581362
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:9005603	Muscle Hypotonia		ISO	RGD:1314539	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Generalized hypotonia	PMID:26424145|PMID:26437029|PMID:28492532|PMID:32581362
12052666	HACE1	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314539	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:26424145|PMID:26437029|PMID:28492532|PMID:32581362
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:1320894	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular cardiomyopathy | ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia | ClinVar Annotator: match by term: Cardiomyopathy, ARVC	PMID:24033266|PMID:25741868|PMID:28492532|PMID:30847666|PMID:31333075|PMID:31568572|PMID:32880476
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:0050451	Brugada syndrome		ISO	RGD:1320894	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Brugada syndrome	PMID:25741868|PMID:28492532|PMID:28986455
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:0050650	familial atrial fibrillation		ISO	RGD:1320894	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Familial atrial fibrillation	PMID:25741868|PMID:28492532
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1320894	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:17576681|PMID:17646580|PMID:20890277|PMID:23861362|PMID:24033266|PMID:24463507|PMID:24503780|PMID:25326637|PMID:25741868|PMID:27532257|PMID:28492532|PMID:28798025|PMID:30847666|PMID:31333075|PMID:31568572|PMID:31983221|PMID:9536098
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:0050817	Stargardt disease		ISO	RGD:1320894	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: STGD	PMID:25326637|PMID:25741868|PMID:28492532
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:0050970	spinocerebellar ataxia type 19/22		ISO	RGD:1320894	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Spinocerebellar ataxia type 19/22	PMID:25741868|PMID:28492532
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1320894	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:24824130
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:0060675	catecholaminergic polymorphic ventricular tachycardia 1		ISO	RGD:1320894	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Catecholaminergic polymorphic ventricular tachycardia 1	PMID:28492532
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:0070201	Miyoshi muscular dystrophy 3		ISO	RGD:1320894	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Miyoshi myopathy 3	PMID:25326637|PMID:25741868|PMID:28492532
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:1320894	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30086531|PMID:30847666|PMID:31333075|PMID:31568572|PMID:31983221
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:0110226	Brugada syndrome 9		ISO	RGD:1320894	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Brugada syndrome 9	PMID:25741868|PMID:28492532
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:0110284	autosomal recessive limb-girdle muscular dystrophy type 2L		ISO	RGD:1320894	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 2L	PMID:25326637|PMID:25741868|PMID:28492532
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1320894	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:24033266|PMID:25741868|PMID:28166811|PMID:28492532|PMID:31333075|PMID:31568572
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1320894	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532|PMID:30086531|PMID:30847666|PMID:31333075|PMID:31568572|PMID:31983221
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:0110438	dilated cardiomyopathy 1JJ		ISO	RGD:1320894	D	RGD:7240710	20180130	OMIM			
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:0110438	dilated cardiomyopathy 1JJ		ISO	RGD:1320894	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1JJ | ClinVar Annotator: match by term: LAMA4-related condition	PMID:16199547|PMID:16204254|PMID:17576681|PMID:17646580|PMID:20890277|PMID:21822268|PMID:23274168|PMID:23861362|PMID:24033266|PMID:24121792|PMID:24463507|PMID:24503780|PMID:25326637|PMID:25741868|PMID:27532257|PMID:28166811|PMID:28416588|PMID:28492532|PMID:28750076|PMID:28798025|PMID:28986455|PMID:29016939|PMID:29247119|PMID:30086531|PMID:30847666|PMID:31024045|PMID:31333075|PMID:31514951|PMID:31527676|PMID:31534214|PMID:31568572|PMID:31983221|PMID:32746448|PMID:32880476|PMID:33874732|PMID:36252119|PMID:9536098
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:0110454	dilated cardiomyopathy 1S		ISO	RGD:1320894	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 1S	
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:0110461	X-linked dilated cardiomyopathy		ISO	RGD:1320894	D	RGD:8554872	20240903	ClinVar		ClinVar Annotator: match by term: Dilated cardiomyopathy 3B	PMID:25741868
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1320894	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1320894	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant | ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:23861362|PMID:24033266|PMID:25741868|PMID:28416588|PMID:28492532|PMID:31333075|PMID:31568572
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:2843	long QT syndrome		ISO	RGD:1320894	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:25741868|PMID:28492532
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:384	Wolff-Parkinson-White syndrome		ISO	RGD:1320894	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Wolff-Parkinson-White pattern	PMID:23861362|PMID:28492532|PMID:30847666
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:630	genetic disease		ISO	RGD:1320894	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:9000497	Dilated Cardiomyopathy with Left Ventricular Noncompaction		ISO	RGD:1320894	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction cardiomyopathy	PMID:28492532
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:9003281	Spontaneous Abortions		ISO	RGD:1320894	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18539642
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:9005141	Ventricular Tachycardia		ISO	RGD:1320894	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ventricular tachycardia	PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:9006630	Stargardt Disease 1		ISO	RGD:1320894	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Stargardt disease 1	PMID:25326637|PMID:25741868|PMID:28492532
12052695	LAMA4	laminin subunit alpha 4	gene	DOID:9007033	Ventricular Premature Complexes		ISO	RGD:1320894	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ventricular contraction	PMID:23861362|PMID:24033266|PMID:25741868|PMID:28492532
12052737	PSMB1	proteasome 20S subunit beta 1	gene	DOID:13938	amenorrhea		ISO	RGD:733154	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:21681106
12052737	PSMB1	proteasome 20S subunit beta 1	gene	DOID:574	peripheral nervous system disease		ISO	RGD:733154	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21228734
12052737	PSMB1	proteasome 20S subunit beta 1	gene	DOID:8398	osteoarthritis		ISO	RGD:733154	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18784066
12052737	PSMB1	proteasome 20S subunit beta 1	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:733154	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21751358
12052737	PSMB1	proteasome 20S subunit beta 1	gene	DOID:9002730	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE		ISO	RGD:733154	D	RGD:7240710	20221221	OMIM			
12052737	PSMB1	proteasome 20S subunit beta 1	gene	DOID:9002730	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE		ISO	RGD:733154	D	RGD:8554872	20221220	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with microcephaly, hypotonia, and absent language	PMID:32129449
12052747	DENND6A	DENN domain containing 6A	gene	DOID:13938	amenorrhea		ISO	RGD:1606682	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Primary amenorrhea	PMID:21681106
12052747	DENND6A	DENN domain containing 6A	gene	DOID:9004857	Pyruvate Dehydrogenase E1-Beta Deficiency		ISO	RGD:1606682	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-beta deficiency	PMID:28492532
12052771	MICAL2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:1059	intellectual disability		ISO	RGD:1602728	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12052771	MICAL2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:3007	breast ductal carcinoma		ISO	RGD:1602728	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ductal breast carcinoma	
12052771	MICAL2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:3008	invasive ductal carcinoma		ISO	RGD:1602728	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Breast cancer, invasive ductal	
12052771	MICAL2	microtubule associated monooxygenase, calponin and LIM domain containing 2	gene	DOID:5082	liver cirrhosis		ISO	RGD:1602728	D	RGD:9068941	20201015	CTD		CTD Direct Evidence: marker/mechanism	PMID:32659284
12052824	AK2	adenylate kinase 2	gene	DOID:0060020	reticular dysgenesis		ISO	RGD:735291	D	RGD:7240710	20180130	OMIM			
12052824	AK2	adenylate kinase 2	gene	DOID:0060020	reticular dysgenesis		ISO	RGD:735291	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Reticular dysgenesis	PMID:17576681|PMID:19043416|PMID:19043417|PMID:19414857|PMID:23014587|PMID:23763981|PMID:24033266|PMID:25741868|PMID:26229552|PMID:26997321|PMID:28331055|PMID:28492532|PMID:29270983|PMID:29713328|PMID:30697212|PMID:30778343|PMID:31673062|PMID:32532877|PMID:9536098
12052824	AK2	adenylate kinase 2	gene	DOID:0080600	COVID-19		ISO	RGD:735291	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12052824	AK2	adenylate kinase 2	gene	DOID:0110199	Charcot-Marie-Tooth disease dominant intermediate C		ISO	RGD:735291	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C	PMID:28492532
12052824	AK2	adenylate kinase 2	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:2077	D	RGD:9068941	20200609	RGD			PMID:22246993|REF_RGD_ID:11100024
12052824	AK2	adenylate kinase 2	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:735291	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Severe combined immunodeficiency disease	PMID:17576681|PMID:19043416|PMID:19043417|PMID:25741868|PMID:26229552|PMID:28331055|PMID:28492532|PMID:29270983|PMID:34814161|PMID:9536098
12052824	AK2	adenylate kinase 2	gene	DOID:630	genetic disease		ISO	RGD:735291	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12052824	AK2	adenylate kinase 2	gene	DOID:9008681	Deafness		ISO	RGD:735291	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19043416
12052841	DBT	dihydrolipoamide branched chain transacylase E2	gene	DOID:630	genetic disease		ISO	RGD:68592	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12052841	DBT	dihydrolipoamide branched chain transacylase E2	gene	DOID:9005672	Maple Syrup Urine Disease, Type 2		ISO	RGD:68592	D	RGD:7240710	20240214	OMIM			
12052841	DBT	dihydrolipoamide branched chain transacylase E2	gene	DOID:9005672	Maple Syrup Urine Disease, Type 2		ISO	RGD:68592	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Maple syrup urine disease type 2	PMID:14508502|PMID:14517957|PMID:14742428|PMID:1547285|PMID:16468966|PMID:16579849|PMID:16786533|PMID:17576681|PMID:18378174|PMID:1847055|PMID:1943690|PMID:19823873|PMID:1990841|PMID:2010537|PMID:20570198|PMID:20639189|PMID:21098507|PMID:24772966|PMID:25525159|PMID:25741868|PMID:26257134|PMID:27518768|PMID:27578510|PMID:28417071|PMID:28492532|PMID:28497172|PMID:31319225|PMID:31980395|PMID:32151765|PMID:32812330|PMID:33083013|PMID:35799415|PMID:36361642|PMID:8430702|PMID:9239422|PMID:9536098|PMID:9621512
12052841	DBT	dihydrolipoamide branched chain transacylase E2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:68592	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
12052841	DBT	dihydrolipoamide branched chain transacylase E2	gene	DOID:9008834	Maple Syrup Urine Disease, Type 1A		ISO	RGD:68592	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Maple syrup urine disease type 1A	PMID:14517957|PMID:1547285|PMID:16468966|PMID:16579849|PMID:16786533|PMID:17576681|PMID:1847055|PMID:19480318|PMID:19823873|PMID:20570198|PMID:20639189|PMID:21098507|PMID:23757202|PMID:24033266|PMID:24394677|PMID:24772966|PMID:25255367|PMID:25525159|PMID:25741868|PMID:26589311|PMID:27518768|PMID:28417071|PMID:28492532|PMID:28497172|PMID:31980395|PMID:32151765|PMID:32812330|PMID:33123633|PMID:34069211|PMID:36361642|PMID:8430702|PMID:9239422|PMID:9536098|PMID:9621512
12052841	DBT	dihydrolipoamide branched chain transacylase E2	gene	DOID:9269	maple syrup urine disease		ISO	RGD:68592	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Maple syrup urine disease	PMID:11112664|PMID:14517957|PMID:1547285|PMID:16199547|PMID:16468966|PMID:16579849|PMID:16786533|PMID:17576681|PMID:18378174|PMID:1847055|PMID:19480318|PMID:19823873|PMID:20570198|PMID:20639189|PMID:21098507|PMID:22090376|PMID:23313820|PMID:23757202|PMID:24033266|PMID:24394677|PMID:24772966|PMID:25255367|PMID:25525159|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26589311|PMID:27243974|PMID:27518768|PMID:28417071|PMID:28492532|PMID:28497172|PMID:30228974|PMID:31119508|PMID:32193832|PMID:32812330|PMID:33123633|PMID:8430702|PMID:9239422|PMID:9536098|PMID:9621512
12052841	DBT	dihydrolipoamide branched chain transacylase E2	gene	DOID:9269	maple syrup urine disease		ISO	RGD:68592	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Maple syrup urine disease	PMID:11112664|PMID:14508502|PMID:14517957|PMID:14741190|PMID:1547285|PMID:16199547|PMID:16468966|PMID:16579849|PMID:16786533|PMID:17576681|PMID:18378174|PMID:1847055|PMID:19480318|PMID:19823873|PMID:20307994|PMID:20570198|PMID:20639189|PMID:21098507|PMID:22090376|PMID:23757202|PMID:24033266|PMID:24268812|PMID:24304607|PMID:24394677|PMID:24772966|PMID:25255367|PMID:25525159|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26453840|PMID:26589311|PMID:27243974|PMID:27518768|PMID:27578510|PMID:28417071|PMID:28492532|PMID:28497172|PMID:30228974|PMID:31112740|PMID:31119508|PMID:31980395|PMID:32193832|PMID:32778825|PMID:32812330|PMID:33083013|PMID:33123633|PMID:33131499|PMID:33868929|PMID:34069211|PMID:35799415|PMID:8430702|PMID:9239422|PMID:9536098|PMID:9621512
12052841	DBT	dihydrolipoamide branched chain transacylase E2	gene	DOID:9269	maple syrup urine disease		ISO	RGD:68592	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Maple syrup urine disease	PMID:11112664|PMID:14508502|PMID:14517957|PMID:14741190|PMID:1547285|PMID:16199547|PMID:16468966|PMID:16579849|PMID:16786533|PMID:17576681|PMID:18378174|PMID:1847055|PMID:19480318|PMID:19823873|PMID:20307994|PMID:20570198|PMID:20639189|PMID:21098507|PMID:22090376|PMID:23313820|PMID:23757202|PMID:24033266|PMID:24268812|PMID:24304607|PMID:24394677|PMID:24772966|PMID:25255367|PMID:25525159|PMID:25741868|PMID:26232051|PMID:26257134|PMID:26453840|PMID:26589311|PMID:27243974|PMID:27518768|PMID:27578510|PMID:28417071|PMID:28492532|PMID:28497172|PMID:30228974|PMID:31112740|PMID:31119508|PMID:31980395|PMID:32151765|PMID:32193832|PMID:32778825|PMID:32812330|PMID:33083013|PMID:33123633|PMID:33131499|PMID:33868929|PMID:34069211|PMID:35799415|PMID:36361642|PMID:8430702|PMID:9239422|PMID:9536098|PMID:9621512
12052856	ITPRID1	ITPR interacting domain containing 1	gene	DOID:4852	pleomorphic xanthoastrocytoma		ISO	RGD:1604967	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma	PMID:28299358
12052925	TRPC4	transient receptor potential cation channel subfamily C member 4	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:733150	D	RGD:8554872	20230815	ClinVar		ClinVar Annotator: match by term: Autism, susceptiblity to	PMID:25741868
12052925	TRPC4	transient receptor potential cation channel subfamily C member 4	gene	DOID:10283	prostate cancer		ISO	RGD:733150	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	PMID:23265383
12052925	TRPC4	transient receptor potential cation channel subfamily C member 4	gene	DOID:1324	lung cancer	susceptibility	ISO	RGD:733150	D	RGD:9068941	20220616	RGD		DNA:SNPs:: (rs9547991, rs978156) (human)	PMID:27617218|REF_RGD_ID:152995362
12052925	TRPC4	transient receptor potential cation channel subfamily C member 4	gene	DOID:9001820	Pulmonary Arterial Hypertension	ameliorates	ISO	XCO:0000010|XCO:0000922	D	RGD:9068941	20220210	RGD			PMID:24113457|REF_RGD_ID:150429956
12052925	TRPC4	transient receptor potential cation channel subfamily C member 4	gene	DOID:9008820	Visceral Pain		ISO	RGD:621276	D	RGD:9068941	20200609	RGD			PMID:24388923|REF_RGD_ID:13825245
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:0050431	arrhythmogenic right ventricular cardiomyopathy		ISO	RGD:732576	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Arrhythmogenic right ventricular dysplasia	PMID:25741868|PMID:28492532
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:0050451	Brugada syndrome		ISO	RGD:732576	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Brugada syndrome | ClinVar Annotator: match by term: Sudden Unexplained Nocturnal Death Syndrome (SUNDS)	PMID:20817017|PMID:22090166|PMID:22840528|PMID:23414114|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24752249|PMID:25326637|PMID:25467552|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26636822|PMID:26707467|PMID:27650965|PMID:27711072|PMID:28492532|PMID:30027834|PMID:30821013
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732576	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies	PMID:20817017|PMID:23414114|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24752249|PMID:25467552|PMID:25637381|PMID:25741868|PMID:27711072|PMID:28492532
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732576	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:20817017|PMID:23414114|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24752249|PMID:25467552|PMID:25637381|PMID:25650408|PMID:25741868|PMID:27711072|PMID:28492532
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:0050793	short QT syndrome		ISO	RGD:732576	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Short QT Syndrome 5	PMID:25741868|PMID:28492532
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:732576	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:0060319	cardiac arrest		ISO	RGD:732576	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Cardiac arrest	PMID:17576681|PMID:25741868|PMID:28492532|PMID:28600387|PMID:9536098
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:0060878	hypoparathyroidism-deafness-renal disease syndrome		ISO	RGD:732576	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypoparathyroidism, deafness, renal disease syndrome	PMID:25741868
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:0110221	Brugada syndrome 4		ISO	RGD:732576	D	RGD:7240710	20180130	OMIM			
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:0110221	Brugada syndrome 4		ISO	RGD:732576	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Brugada syndrome 4 | ClinVar Annotator: match by term: CACNB2-related condition	PMID:17224476|PMID:17576681|PMID:19358333|PMID:20817017|PMID:22090166|PMID:22840528|PMID:23414114|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24752249|PMID:25326637|PMID:25467552|PMID:25637381|PMID:25650408|PMID:25741868|PMID:26220970|PMID:26230511|PMID:26636822|PMID:26707467|PMID:27650965|PMID:27662471|PMID:27711072|PMID:28341588|PMID:28492532|PMID:28600387|PMID:28704380|PMID:29016939|PMID:30027834|PMID:30415094|PMID:30821013|PMID:30847666|PMID:30975432|PMID:9536098
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:0110275	autosomal recessive limb-girdle muscular dystrophy type 2A		ISO	RGD:732576	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Calpainopathy	PMID:20817017|PMID:22090166|PMID:23414114|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25326637|PMID:25637381|PMID:27711072|PMID:28492532|PMID:30821013
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:10273	heart conduction disease		ISO	RGD:732576	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Conduction system disorder	
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:10763	hypertension	susceptibility	ISO	RGD:732576	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs4373814(human)	PMID:24338417|REF_RGD_ID:13513987
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:732576	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:23861362|PMID:25741868|PMID:28492532
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:11984	hypertrophic cardiomyopathy	severity	ISO	RGD:732576	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:c.1598C>T (p.S533L)(human)	PMID:28614222|REF_RGD_ID:13513985
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732576	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	PMID:23861362|PMID:25741868|PMID:28492532
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:2843	long QT syndrome		ISO	RGD:732576	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:20817017|PMID:22840528|PMID:23414114|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26636822|PMID:26707467|PMID:27650965|PMID:27711072|PMID:28492532|PMID:30027834
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:9000006	Supraventricular Tachycardia		ISO	RGD:732576	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Supraventricular tachycardia	PMID:23861362|PMID:25741868|PMID:28492532
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:9000064	Cardiac Arrhythmias		ISO	RGD:732576	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardiac arrhythmia	PMID:23861362|PMID:28492532
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:9000184	Ventricular Fibrillation		ISO	RGD:732576	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Early repolarization associated with ventricular fibrillation | ClinVar Annotator: match by term: Ventricular fibrillation	PMID:20817017|PMID:22840528|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25741868|PMID:26707467|PMID:27650965|PMID:28492532|PMID:30027834
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:9002919	Sudden Unexpected Nocturnal Death Syndrome		ISO	RGD:732576	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Sudden unexpected nocturnal death syndrome	PMID:20817017|PMID:22090166|PMID:22840528|PMID:23414114|PMID:23861362|PMID:23874304|PMID:24033266|PMID:24055113|PMID:24752249|PMID:25326637|PMID:25467552|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26636822|PMID:26707467|PMID:27650965|PMID:27711072|PMID:28492532|PMID:30027834|PMID:30821013
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:9003740	Nerve Injuries		ISO	RGD:67385	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:dorsal root ganglion,spindal cord:	PMID:22187436|REF_RGD_ID:13514092
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:9004416	Paroxysmal Ventricular Fibrillation		ISO	RGD:732576	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Paroxysmal familial ventricular fibrillation	PMID:20817017|PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:9005141	Ventricular Tachycardia		ISO	RGD:732576	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Ventricular tachycardia	PMID:20817017|PMID:23414114|PMID:23861362|PMID:24033266|PMID:24055113|PMID:25637381|PMID:25741868|PMID:26230511|PMID:26636822|PMID:27711072|PMID:28492532
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:9006825	Imerslund-Grasbeck Syndrome		ISO	RGD:732576	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Imerslund-Grasbeck syndrome	PMID:28492532
12052942	CACNB2	calcium voltage-gated channel auxiliary subunit beta 2	gene	DOID:9007820	Sudden Death		ISO	RGD:732576	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sudden unexplained death	PMID:20817017|PMID:24033266|PMID:25637381|PMID:25741868|PMID:28492532
12052967	CSK	C-terminal Src kinase	gene	DOID:0080519	PAPA syndrome		ISO	RGD:1318780	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Familial recurrent arthritis	PMID:28492532
12052967	CSK	C-terminal Src kinase	gene	DOID:0110225	Brugada syndrome 8		ISO	RGD:1318780	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Brugada syndrome 8	PMID:28492532
12052967	CSK	C-terminal Src kinase	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1318780	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:28492532
12052967	CSK	C-terminal Src kinase	gene	DOID:2717	Bloom syndrome		ISO	RGD:1318780	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Bloom syndrome	PMID:28492532
12052967	CSK	C-terminal Src kinase	gene	DOID:2723	dermatitis		ISO	RGD:1318781	D	RGD:9068941	20200609	RGD			PMID:14975240|REF_RGD_ID:5134363
12052967	CSK	C-terminal Src kinase	gene	DOID:5419	schizophrenia		ISO	RGD:1318780	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
12052967	CSK	C-terminal Src kinase	gene	DOID:552	pneumonia		ISO	RGD:1318781	D	RGD:9068941	20200609	RGD			PMID:14975240|REF_RGD_ID:5134363
12052967	CSK	C-terminal Src kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1308800	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver	PMID:9918913|REF_RGD_ID:5134372
12052967	CSK	C-terminal Src kinase	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1318780	D	RGD:9068941	20200609	RGD		protein:decreased expression:liver	PMID:9918913|REF_RGD_ID:5134372
12052967	CSK	C-terminal Src kinase	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1318780	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16769263
12052967	CSK	C-terminal Src kinase	gene	DOID:9002221	Hyperplasia		ISO	RGD:1308800	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:large intestine mucosa	PMID:15961079|REF_RGD_ID:5134365
12052967	CSK	C-terminal Src kinase	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1308800	D	RGD:9068941	20200609	RGD			PMID:10411542|REF_RGD_ID:5134371
12052967	CSK	C-terminal Src kinase	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1318780	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23042117
12052967	CSK	C-terminal Src kinase	gene	DOID:9256	colorectal cancer		ISO	RGD:1318780	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Familial colorectal cancer	PMID:28492532
12052990	PPEF2	protein phosphatase with EF-hand domain 2	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:1316080	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Progressive myoclonic epilepsy	PMID:19847901|PMID:28492532
12053017	CRYGA	crystallin gamma A	gene	DOID:14557	primary pulmonary hypertension		ISO	RGD:1351411	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Primary pulmonary hypertension	PMID:28492532|PMID:31727138
12053017	CRYGA	crystallin gamma A	gene	DOID:83	cataract		ISO	RGD:1351411	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital cataract	PMID:25741868|PMID:28839118
12053017	CRYGA	crystallin gamma A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1351411	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12053028	CBFA2T3	CBFA2/RUNX1 partner transcriptional co-repressor 3	gene	DOID:0070193	autosomal recessive chronic granulomatous disease 4		ISO	RGD:1321512	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	PMID:10910929|PMID:20167518|PMID:22876374|PMID:28492532
12053028	CBFA2T3	CBFA2/RUNX1 partner transcriptional co-repressor 3	gene	DOID:0110619	primary ciliary dyskinesia 33		ISO	RGD:1321512	D	RGD:8554872	20230314	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia 33	PMID:28492532
12053028	CBFA2T3	CBFA2/RUNX1 partner transcriptional co-repressor 3	gene	DOID:12849	autistic disorder		ISO	RGD:1321512	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
12053028	CBFA2T3	CBFA2/RUNX1 partner transcriptional co-repressor 3	gene	DOID:13636	Fanconi anemia		ISO	RGD:1321512	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Fanconi anemia	PMID:28492532
12053028	CBFA2T3	CBFA2/RUNX1 partner transcriptional co-repressor 3	gene	DOID:14780	KBG syndrome		ISO	RGD:1321512	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: KBG syndrome	PMID:21782149|PMID:25125236|PMID:25413698|PMID:25652421|PMID:28492532|PMID:31602316|PMID:31690835
12053028	CBFA2T3	CBFA2/RUNX1 partner transcriptional co-repressor 3	gene	DOID:9003864	16Q24.3 Microdeletion Syndrome		ISO	RGD:1321512	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: 16q24.3 microdeletion syndrome	
12053054	ARF6	ADP ribosylation factor 6	gene	DOID:9004758	Brain-Lung-Thyroid Syndrome		ISO	RGD:734181	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Brain-lung-thyroid syndrome	PMID:25741868
12053060	MAMDC4	MAM domain containing 4	gene	DOID:0060352	Kleefstra syndrome 1		ISO	RGD:1604980	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Kleefstra syndrome 1	PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758
12053060	MAMDC4	MAM domain containing 4	gene	DOID:0060686	autosomal dominant nocturnal frontal lobe epilepsy 5		ISO	RGD:1604980	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5	PMID:28492532
12053060	MAMDC4	MAM domain containing 4	gene	DOID:0070038	autosomal dominant intellectual developmental disorder 8		ISO	RGD:1604980	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	PMID:28492532
12053060	MAMDC4	MAM domain containing 4	gene	DOID:0070244	primary coenzyme Q10 deficiency 7		ISO	RGD:1604980	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	PMID:28492532
12053060	MAMDC4	MAM domain containing 4	gene	DOID:0080324	tuberous sclerosis 1		ISO	RGD:1604980	D	RGD:8554872	20230314	ClinVar		ClinVar Annotator: match by term: Tuberous sclerosis 1	PMID:28492532
12053060	MAMDC4	MAM domain containing 4	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1604980	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
12053060	MAMDC4	MAM domain containing 4	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1604980	D	RGD:8554872	20230314	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532
12053060	MAMDC4	MAM domain containing 4	gene	DOID:0081097	Rafiq syndrome		ISO	RGD:1604980	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Rafiq syndrome	PMID:24566669|PMID:28492532|PMID:30982612
12053060	MAMDC4	MAM domain containing 4	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1604980	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis	PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532
12053060	MAMDC4	MAM domain containing 4	gene	DOID:3652	Leigh disease		ISO	RGD:1604980	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:28492532
12053060	MAMDC4	MAM domain containing 4	gene	DOID:9005781	Adams-Oliver Syndrome 5		ISO	RGD:1604980	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Adams-Oliver syndrome 5	PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532
12053093	KBTBD11	kelch repeat and BTB domain containing 11	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1604839	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12053093	KBTBD11	kelch repeat and BTB domain containing 11	gene	DOID:9003884	Recombinant Chromosome 8 Syndrome		ISO	RGD:1604839	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Recombinant 8 syndrome	PMID:31690835
12053094	SRPX	sushi repeat containing protein X-linked	gene	DOID:0060799	syndromic X-linked intellectual disability Lubs type		ISO	RGD:733583	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type	PMID:25741868
12053094	SRPX	sushi repeat containing protein X-linked	gene	DOID:0070195	X-linked chronic granulomatous disease		ISO	RGD:733583	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Granulomatous disease, chronic, X-linked	PMID:22929960|PMID:27701760|PMID:28492532
12053094	SRPX	sushi repeat containing protein X-linked	gene	DOID:0110414	retinitis pigmentosa 3		ISO	RGD:733583	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 3	
12053094	SRPX	sushi repeat containing protein X-linked	gene	DOID:12849	autistic disorder		ISO	RGD:733583	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
12053094	SRPX	sushi repeat containing protein X-linked	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733583	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12053094	SRPX	sushi repeat containing protein X-linked	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:733583	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12053094	SRPX	sushi repeat containing protein X-linked	gene	DOID:9007661	Dwarfism		ISO	RGD:733583	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Short stature	
12053094	SRPX	sushi repeat containing protein X-linked	gene	DOID:9271	ornithine carbamoyltransferase deficiency		ISO	RGD:733583	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency	PMID:10946359|PMID:11793468|PMID:16055928|PMID:16786505|PMID:16969763|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532
12053094	SRPX	sushi repeat containing protein X-linked	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:733583	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:10946359|PMID:11793468|PMID:16055928|PMID:16786505|PMID:16969763|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:735711	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:0080074	neural tube defect		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20641098
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27565560
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:0080519	PAPA syndrome		ISO	RGD:735711	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Familial recurrent arthritis	PMID:28492532
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:0110225	Brugada syndrome 8		ISO	RGD:735711	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Brugada syndrome 8	PMID:28492532
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:10783	methemoglobinemia		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12030840
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:13580	cholestasis		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27565560
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:1380	endometrial cancer		ISO	RGD:735711	D	RGD:9068941	20200609	RGD		DNA:SNP::differences in allele and genotype distribution for CYP1A2*1F polymorphism (p=0.00000002)	PMID:18497059|REF_RGD_ID:2301045
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:1596	depressive disorder		ISO	RGD:2459	D	RGD:9068941	20200609	RGD			PMID:20595028|REF_RGD_ID:4892242
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:1612	breast cancer		ISO	RGD:735711	D	RGD:9068941	20200609	RGD		DNA:SNP::differences in allele and genotype distribution for CYP1A2*1F polymorphism (p=0.0000005)	PMID:18497059|REF_RGD_ID:2301045
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22072123
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:735711	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:28492532
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:2529	splenic disease		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20961953
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:2717	Bloom syndrome		ISO	RGD:735711	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Bloom syndrome	PMID:28492532
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:3021	acute kidney failure	treatment	ISO	RGD:10438	D	RGD:9068941	20200609	RGD			PMID:18495746|PMID:23981375|REF_RGD_ID:7257727|REF_RGD_ID:7257735
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20797314
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:735711	D	RGD:9068941	20200609	RGD		DNA:polymorphisms: :-3860G>A (human)	PMID:20080081|REF_RGD_ID:4293707
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:3132	porphyria cutanea tarda		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11153915
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:3132	porphyria cutanea tarda		ISO	RGD:735711	D	RGD:9068941	20200609	RGD			PMID:20957336|REF_RGD_ID:11576316
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:409	liver disease		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12969438
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:5082	liver cirrhosis		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27565560
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:5419	schizophrenia		ISO	RGD:735711	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:6000	congestive heart failure	treatment	ISO	RGD:2459	D	RGD:9068941	20231109	RGD			PMID:34958945|REF_RGD_ID:401900155
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9000310	Lung Injury		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25703676
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9001312	Tardive Dyskinesia	treatment	ISO	RGD:735711	D	RGD:9068941	20200609	RGD		associated with schizophrenia	PMID:10889552|REF_RGD_ID:1358545
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11376689|PMID:21147764
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9002720	Splenomegaly		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10445756
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9004462	Atrophy		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20961953
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9004484	Sepsis		ISO	RGD:2459	D	RGD:9068941	20200609	RGD			PMID:15665729|PMID:18360687|REF_RGD_ID:2303376|REF_RGD_ID:5147745
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9004898	Jaundice		ISO	RGD:2459	D	RGD:9068941	20200609	RGD			PMID:8502229|REF_RGD_ID:11576308
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9004898	Jaundice		ISO	RGD:2459	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:18442205|REF_RGD_ID:2303375
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22072123
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9005369	Hepatomegaly		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10445756
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9006257	Growth Disorders		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20961953
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9006575	Vitamin E Deficiency	treatment	ISO	RGD:2459	D	RGD:9068941	20231109	RGD		associated with nitrate tolerance	PMID:16520233|REF_RGD_ID:401900296
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9006810	Drug-Related Side Effects and Adverse Reactions		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10445756
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28762043
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9007639	Metabolic Side Effects of Drugs and Substances		ISO	RGD:2459	D	RGD:9068941	20231116	RGD		Associated with incense smoke exposure;mRNA:increased expression:heart (rat)	PMID:25687613|REF_RGD_ID:401900684
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9007639	Metabolic Side Effects of Drugs and Substances		ISO	RGD:2459	D	RGD:9068941	20231116	RGD		associated with nitrate tolerance; protein:decreased expression:thoracic aorta (rat)	PMID:12688525|REF_RGD_ID:401900656
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9007639	Metabolic Side Effects of Drugs and Substances	treatment	ISO	RGD:2459	D	RGD:9068941	20231109	RGD		associated with nitrate tolerance	PMID:16520233|REF_RGD_ID:401900296
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9007703	Phenacetin O-Deethylase, Deficiency of		IAGP		D	RGD:12801476	20230823	OMIA		Metabolizer of a cognitive enhancer	PMID:15564884|PMID:14744947|PMID:15742977|PMID:16882764|PMID:16473917|PMID:37144920|PMID:37317989|PMID:37582787
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9007755	Intestinal Reperfusion Injury	treatment	ISO	RGD:2459	D	RGD:9068941	20230824	RGD			PMID:22079846|REF_RGD_ID:401794136
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21081473
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9008691	Liver Injury		ISO	RGD:2459	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:liver	PMID:26590097|REF_RGD_ID:11576319
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9256	colorectal cancer		ISO	RGD:735711	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Familial colorectal cancer	PMID:28492532
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22244987
12053109	CYP1A2	cytochrome P450 family 1 subfamily A member 2	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:735711	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22674224
12053130	CRYGS	crystallin gamma S	gene	DOID:0060575	3MC syndrome 1		ISO	RGD:1320030	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: 3MC syndrome 1	PMID:28492532|PMID:29407414
12053130	CRYGS	crystallin gamma S	gene	DOID:0110240	cataract 20 multiple types		ISO	RGD:1320030	D	RGD:7240710	20180130	OMIM			
12053130	CRYGS	crystallin gamma S	gene	DOID:0110240	cataract 20 multiple types		ISO	RGD:1320030	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Cataract 20 multiple types	PMID:16141006|PMID:17576681|PMID:18587492|PMID:19262743|PMID:25741868|PMID:28166811|PMID:28450710|PMID:28492532|PMID:29964096|PMID:9536098
12053130	CRYGS	crystallin gamma S	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1320030	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:16141006|PMID:25741868
12053130	CRYGS	crystallin gamma S	gene	DOID:630	genetic disease		ISO	RGD:1320030	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28166811|PMID:28492532
12053130	CRYGS	crystallin gamma S	gene	DOID:83	cataract		ISO	RGD:1320030	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16141006
12053147	SPACDR	sperm acrosome developmental regulator	gene	DOID:4852	pleomorphic xanthoastrocytoma		ISO	RGD:1602147	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma	PMID:28299358
12053154	ATG4B	autophagy related 4B cysteine peptidase	gene	DOID:0110781	hereditary spastic paraplegia 30		ISO	RGD:1320126	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 30	PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895
12053154	ATG4B	autophagy related 4B cysteine peptidase	gene	DOID:0111351	D-2-hydroxyglutaric aciduria 1		ISO	RGD:1320126	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1	PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895
12053154	ATG4B	autophagy related 4B cysteine peptidase	gene	DOID:0111704	chromosome 2q37 deletion syndrome		ISO	RGD:1320126	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome	PMID:25741868
12053154	ATG4B	autophagy related 4B cysteine peptidase	gene	DOID:1059	intellectual disability		ISO	RGD:1320126	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12053154	ATG4B	autophagy related 4B cysteine peptidase	gene	DOID:9001550	Bethlem Myopathy 1A		ISO	RGD:1320126	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Bethlem myopathy 1A	PMID:26004199|PMID:28492532
12053193	NCBP3	nuclear cap binding subunit 3	gene	DOID:3613	Canavan disease		ISO	RGD:1604808	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Spongy degeneration of central nervous system	PMID:12638939|PMID:19932039|PMID:28492532
12053214	ZBTB41	zinc finger and BTB domain containing 41	gene	DOID:0110358	retinitis pigmentosa 12		ISO	RGD:1603485	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 12	PMID:10508521|PMID:17964524|PMID:22065545|PMID:23379534|PMID:25412400|PMID:26957898|PMID:28041643|PMID:28492532|PMID:29391521
12053214	ZBTB41	zinc finger and BTB domain containing 41	gene	DOID:1540	parathyroid carcinoma		ISO	RGD:1603485	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Parathyroid carcinoma	PMID:28492532
12053214	ZBTB41	zinc finger and BTB domain containing 41	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1603485	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:28492532
12053241	OR14I2	olfactory receptor family 14 subfamily I member 2	gene	DOID:0080418	developmental and epileptic encephalopathy 54		ISO	RGD:1349157	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54	PMID:25741868
12053241	OR14I2	olfactory receptor family 14 subfamily I member 2	gene	DOID:1540	parathyroid carcinoma		ISO	RGD:1349157	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Parathyroid carcinoma	PMID:28492532
12053241	OR14I2	olfactory receptor family 14 subfamily I member 2	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1349157	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:28492532
12053252	LOC100687722	ribosomal protein, large, P1 pseudogene	gene	DOID:2717	Bloom syndrome		ISO	RGD:736952	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Bloom syndrome	PMID:28492532
12053252	LOC100687722	ribosomal protein, large, P1 pseudogene	gene	DOID:9256	colorectal cancer		ISO	RGD:736952	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Familial colorectal cancer	PMID:28492532
12053254	ENTPD8	ectonucleoside triphosphate diphosphohydrolase 8	gene	DOID:0060352	Kleefstra syndrome 1		ISO	RGD:1602162	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Kleefstra syndrome 1	PMID:16826528|PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:26833960|PMID:27891178|PMID:28492532|PMID:31209758
12053254	ENTPD8	ectonucleoside triphosphate diphosphohydrolase 8	gene	DOID:0070038	autosomal dominant intellectual developmental disorder 8		ISO	RGD:1602162	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	PMID:16826528|PMID:19264732|PMID:26833960|PMID:28492532
12053254	ENTPD8	ectonucleoside triphosphate diphosphohydrolase 8	gene	DOID:0070244	primary coenzyme Q10 deficiency 7		ISO	RGD:1602162	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	PMID:28492532
12053254	ENTPD8	ectonucleoside triphosphate diphosphohydrolase 8	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1602162	D	RGD:8554872	20230314	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14	PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532
12053254	ENTPD8	ectonucleoside triphosphate diphosphohydrolase 8	gene	DOID:0081097	Rafiq syndrome		ISO	RGD:1602162	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Rafiq syndrome	PMID:24566669|PMID:28492532|PMID:30982612
12053254	ENTPD8	ectonucleoside triphosphate diphosphohydrolase 8	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1602162	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis	PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532
12053254	ENTPD8	ectonucleoside triphosphate diphosphohydrolase 8	gene	DOID:1826	epilepsy		ISO	RGD:1602162	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Epilepsy	
12053254	ENTPD8	ectonucleoside triphosphate diphosphohydrolase 8	gene	DOID:9005781	Adams-Oliver Syndrome 5		ISO	RGD:1602162	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Adams-Oliver syndrome 5	PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532
12053283	MIR136	microRNA mir-136	gene	DOID:0111712	Kagami-Ogata syndrome		ISO	RGD:1349910	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Paternal uniparental disomy 14	PMID:18176563
12053283	MIR136	microRNA mir-136	gene	DOID:1324	lung cancer		ISO	RGD:1608336	D	RGD:9068941	20220715	RGD		RNA:increased expression:lung (human)	PMID:20237410|REF_RGD_ID:152995484
12053283	MIR136	microRNA mir-136	gene	DOID:1324	lung cancer	ameliorates	ISO	RGD:1349910	D	RGD:9068941	20220915	RGD		human cells in mouse model	PMID:34258296|REF_RGD_ID:153350142
12053283	MIR136	microRNA mir-136	gene	DOID:219	colon cancer		ISO	RGD:1349910	D	RGD:9068941	20220901	RGD		RNA:decreased expression:colon (human)	PMID:28710032|REF_RGD_ID:153344627
12053283	MIR136	microRNA mir-136	gene	DOID:219	colon cancer	disease_progression	ISO	RGD:1349910	D	RGD:9068941	20220902	RGD		RNA:decreased expression:colon (human)	PMID:29339925|REF_RGD_ID:153345546
12053283	MIR136	microRNA mir-136	gene	DOID:2876	laryngeal squamous cell carcinoma		ISO	RGD:1349910	D	RGD:9068941	20220901	RGD		RNA:decreased expression:larynx (human)	PMID:32014687|REF_RGD_ID:153344610
12053283	MIR136	microRNA mir-136	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1349910	D	RGD:9068941	20220901	RGD		RNA:decreased expression:lung (human)	PMID:31059060|REF_RGD_ID:153344623
12053283	MIR136	microRNA mir-136	gene	DOID:3908	lung non-small cell carcinoma	ameliorates	ISO	RGD:1349910	D	RGD:9068941	20220915	RGD		human cells in mouse model	PMID:34556984|REF_RGD_ID:153344608
12053283	MIR136	microRNA mir-136	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:1349910	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28030816
12053283	MIR136	microRNA mir-136	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:1349910	D	RGD:9068941	20220902	RGD		RNA:decreased expression:liver (human)	PMID:28849100|REF_RGD_ID:153345547
12053283	MIR136	microRNA mir-136	gene	DOID:9000965	Neoplasm Metastasis	ameliorates	ISO	RGD:1349910	D	RGD:9068941	20220901	RGD		associated with stomach cancer;human cells in mouse model	PMID:28656883|REF_RGD_ID:153344628
12053283	MIR136	microRNA mir-136	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1349910	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25105010
12053283	MIR136	microRNA mir-136	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:1349910	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20643829
12053283	MIR136	microRNA mir-136	gene	DOID:9007787	Carcinoid Tumor		ISO	RGD:1349910	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25105010
12053283	MIR136	microRNA mir-136	gene	DOID:9256	colorectal cancer	ameliorates	ISO	RGD:1349910	D	RGD:9068941	20220908	RGD		human cells in mouse model	PMID:34974791|REF_RGD_ID:153344629
12053351	CAPSL	calcyphosine like	gene	DOID:12849	autistic disorder		ISO	RGD:1601932	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
12053351	CAPSL	calcyphosine like	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1601932	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12053380	AHCY	adenosylhomocysteinase	gene	DOID:0050544	hypermethioninemia		ISO	RGD:731745	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypermethioninemia	PMID:25741868
12053380	AHCY	adenosylhomocysteinase	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:731745	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29127188
12053380	AHCY	adenosylhomocysteinase	gene	DOID:0080699	glutathione synthetase deficiency		ISO	RGD:731745	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: PYROGLUTAMIC ACIDURIA	PMID:12638941|PMID:15717202|PMID:28492532
12053380	AHCY	adenosylhomocysteinase	gene	DOID:0081034	glutatione synthetase deficiency with 5-oxoprolinuria		ISO	RGD:731745	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: 5-OXOPROLINURIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY	PMID:12638941|PMID:15717202|PMID:28492532
12053380	AHCY	adenosylhomocysteinase	gene	DOID:0111039	hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase		ISO	RGD:731745	D	RGD:7240710	20180130	OMIM			
12053380	AHCY	adenosylhomocysteinase	gene	DOID:0111039	hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase		ISO	RGD:731745	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	PMID:15024124|PMID:16435181|PMID:16736098|PMID:16872278|PMID:17576681|PMID:18211827|PMID:19177456|PMID:19619139|PMID:20385918|PMID:20852937|PMID:22959829|PMID:25473036|PMID:25660390|PMID:25741868|PMID:28492532|PMID:28647132|PMID:28779239|PMID:29205322|PMID:31957987|PMID:33072517|PMID:9536098
12053380	AHCY	adenosylhomocysteinase	gene	DOID:10763	hypertension		ISO	RGD:736014	D	RGD:9068941	20200609	RGD		associated with hyperhomocysteinemia	PMID:16815886|REF_RGD_ID:1601153
12053380	AHCY	adenosylhomocysteinase	gene	DOID:2843	long QT syndrome		ISO	RGD:731745	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:28492532
12053380	AHCY	adenosylhomocysteinase	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:731745	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12053380	AHCY	adenosylhomocysteinase	gene	DOID:630	genetic disease		ISO	RGD:731745	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15024124|PMID:16435181|PMID:16736098|PMID:16872278|PMID:18211827|PMID:19177456|PMID:20385918|PMID:20852937|PMID:22959829|PMID:25473036|PMID:25660390|PMID:25741868|PMID:28492532|PMID:28647132|PMID:28779239|PMID:29205322|PMID:33072517
12053380	AHCY	adenosylhomocysteinase	gene	DOID:7693	abdominal aortic aneurysm	susceptibility	ISO	RGD:731745	D	RGD:9068941	20230831	RGD		DNA:SNPs,haplotypes:intron: (rs819146, rs7271501) (human)	PMID:18635682|REF_RGD_ID:329853746
12053380	AHCY	adenosylhomocysteinase	gene	DOID:8455	pyridoxine deficiency anemia		ISO	RGD:69260	D	RGD:9068941	20200609	RGD			PMID:11575573|REF_RGD_ID:1598897
12053380	AHCY	adenosylhomocysteinase	gene	DOID:893	Wilson disease		ISO	RGD:731745	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23519153
12053380	AHCY	adenosylhomocysteinase	gene	DOID:9000884	Rhabdomyolysis		ISO	RGD:731745	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Rhabdomyolysis	PMID:15024124|PMID:16435181|PMID:16736098|PMID:16872278|PMID:18211827|PMID:25473036|PMID:25741868|PMID:28492532|PMID:28647132|PMID:28779239|PMID:33072517
12053380	AHCY	adenosylhomocysteinase	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:69260	D	RGD:9068941	20200609	RGD			PMID:11123369|REF_RGD_ID:1598898
12053380	AHCY	adenosylhomocysteinase	gene	DOID:9002669	Hypoxia		ISO	RGD:731745	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19579223
12053380	AHCY	adenosylhomocysteinase	gene	DOID:9003386	Sunburn		ISO	RGD:731745	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: SKIN/HAIR/EYE PIGMENTATION 9, DARK/LIGHT HAIR	PMID:11833005|PMID:18488028
12053380	AHCY	adenosylhomocysteinase	gene	DOID:9003687	Multisystem Autoimmune Disease with Facial Dysmorphism		ISO	RGD:731745	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM	PMID:28492532
12053380	AHCY	adenosylhomocysteinase	gene	DOID:9005453	Obesity and Hypopigmentation		ISO	RGD:731745	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Obesity and hypopigmentation	PMID:36536132
12053380	AHCY	adenosylhomocysteinase	gene	DOID:9006205	Animal Disease Models		ISO	RGD:731745	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12053380	AHCY	adenosylhomocysteinase	gene	DOID:9252	amino acid metabolic disorder		ISO	RGD:731745	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15024124
12053380	AHCY	adenosylhomocysteinase	gene	DOID:9279	hyperhomocysteinemia		ISO	RGD:69260	D	RGD:9068941	20200609	RGD			PMID:12208805|REF_RGD_ID:1598896
12053393	CD40	CD40 molecule	gene	DOID:0050169	cutaneous lupus erythematosus		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:18050371|REF_RGD_ID:8547765
12053393	CD40	CD40 molecule	gene	DOID:0050175	tick-borne encephalitis		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid (human)	PMID:16463218|REF_RGD_ID:11352252
12053393	CD40	CD40 molecule	gene	DOID:0050185	erythema multiforme		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:18050371|REF_RGD_ID:8547765
12053393	CD40	CD40 molecule	gene	DOID:0050745	diffuse large B-cell lymphoma	susceptibility	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		DNA:SNP:5' utr:c.-1C>T (rs1883832) (human)	PMID:20473910|REF_RGD_ID:5490541
12053393	CD40	CD40 molecule	gene	DOID:0050873	follicular lymphoma	susceptibility	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		DNA:SNP:5' utr:c.-1C>T (rs1883832) (human)	PMID:20473910|REF_RGD_ID:5490541
12053393	CD40	CD40 molecule	gene	DOID:0050908	myelodysplastic syndrome		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		protein:increased expression:peripheral blood, monocyte (human)	PMID:17805323|REF_RGD_ID:11520793
12053393	CD40	CD40 molecule	gene	DOID:0060022	CD40 ligand deficiency		ISO	RGD:1604657	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Immunodeficiency, X-linked, with hyper-IgM	PMID:25741868|PMID:29884852
12053393	CD40	CD40 molecule	gene	DOID:0060023	immunodeficiency with hyper IgM type 3		ISO	RGD:1604657	D	RGD:7240710	20190911	OMIM			
12053393	CD40	CD40 molecule	gene	DOID:0060023	immunodeficiency with hyper IgM type 3		ISO	RGD:1604657	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: CD40-related condition | ClinVar Annotator: match by term: Hyper-IgM Immunodeficiency Syndrome, Type 3 | ClinVar Annotator: match by term: Immunodeficiency with hyper IgM type 3	PMID:11675497|PMID:12584544|PMID:12593727|PMID:14611700|PMID:15272925|PMID:15307939|PMID:15731360|PMID:17344890|PMID:17949264|PMID:18446002|PMID:20702779|PMID:22342113|PMID:24033266|PMID:24122029|PMID:25741868|PMID:28492532|PMID:29884852|PMID:35729272|PMID:36808635
12053393	CD40	CD40 molecule	gene	DOID:0060060	non-Hodgkin lymphoma	treatment	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:19636010|REF_RGD_ID:11522746
12053393	CD40	CD40 molecule	gene	DOID:0060180	colitis		ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:15591506|REF_RGD_ID:5508169
12053393	CD40	CD40 molecule	gene	DOID:0060224	atrial fibrillation	treatment	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:17392495|REF_RGD_ID:8547746
12053393	CD40	CD40 molecule	gene	DOID:0060903	thrombosis		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:21914625|REF_RGD_ID:5490522
12053393	CD40	CD40 molecule	gene	DOID:0080162	lupus nephritis	treatment	ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:18566369|PMID:19265127|PMID:23799000|REF_RGD_ID:7248418|REF_RGD_ID:7248425|REF_RGD_ID:7248429
12053393	CD40	CD40 molecule	gene	DOID:0080540	galactosialidosis		ISO	RGD:1604657	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Combined deficiency of sialidase AND beta galactosidase	PMID:15110321|PMID:23915561|PMID:28492532
12053393	CD40	CD40 molecule	gene	DOID:0080544	hyper IgM syndrome		ISO	RGD:1604657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12053393	CD40	CD40 molecule	gene	DOID:0081267	graft-versus-host disease	treatment	ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:18981161|REF_RGD_ID:7248735
12053393	CD40	CD40 molecule	gene	DOID:10223	dermatomyositis		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:18050371|REF_RGD_ID:8547765
12053393	CD40	CD40 molecule	gene	DOID:10591	pre-eclampsia		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		protein:increased expression:blood, monocyte (human)	PMID:19221099|REF_RGD_ID:11520792
12053393	CD40	CD40 molecule	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:21414686|REF_RGD_ID:5490302
12053393	CD40	CD40 molecule	gene	DOID:10976	membranous glomerulonephritis	treatment	ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:23223173|REF_RGD_ID:8547786
12053393	CD40	CD40 molecule	gene	DOID:10976	membranous glomerulonephritis	treatment	ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:23223173|REF_RGD_ID:8547786
12053393	CD40	CD40 molecule	gene	DOID:11263	chlamydia		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:20102413|REF_RGD_ID:5132268
12053393	CD40	CD40 molecule	gene	DOID:11339	pneumocystosis	treatment	ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:10968950|REF_RGD_ID:8547797
12053393	CD40	CD40 molecule	gene	DOID:12053	cryptococcosis	treatment	ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:16552046|REF_RGD_ID:7248435
12053393	CD40	CD40 molecule	gene	DOID:12361	Graves' disease		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		DNA:SNP:5' utr:-1C>T (human)	PMID:12593727|REF_RGD_ID:8547766
12053393	CD40	CD40 molecule	gene	DOID:12361	Graves' disease	no_association	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		DNA:SNP:5' utr:-1C>T (human)	PMID:15307939|REF_RGD_ID:8547769
12053393	CD40	CD40 molecule	gene	DOID:12361	Graves' disease	onset	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		DNA:SNP	PMID:18755875|REF_RGD_ID:8547778
12053393	CD40	CD40 molecule	gene	DOID:12365	malaria	severity	ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:11485931|REF_RGD_ID:11352239
12053393	CD40	CD40 molecule	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:9495297|REF_RGD_ID:13702889
12053393	CD40	CD40 molecule	gene	DOID:13139	crescentic glomerulonephritis		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:14569091|REF_RGD_ID:7248599
12053393	CD40	CD40 molecule	gene	DOID:13378	Kawasaki disease		ISO	RGD:1604657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22446961|PMID:22446962
12053393	CD40	CD40 molecule	gene	DOID:13378	Kawasaki disease	susceptibility	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:c.51+1066C>T, (rs1535045) (human)	PMID:22645426|REF_RGD_ID:8547776
12053393	CD40	CD40 molecule	gene	DOID:1790	malignant mesothelioma	treatment	ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:22002241|REF_RGD_ID:11522742
12053393	CD40	CD40 molecule	gene	DOID:1824	status epilepticus		ISO	RGD:1604657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18455351
12053393	CD40	CD40 molecule	gene	DOID:1909	melanoma	treatment	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:17327609|REF_RGD_ID:11522745
12053393	CD40	CD40 molecule	gene	DOID:1909	melanoma	treatment	ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:22421945|REF_RGD_ID:11522740
12053393	CD40	CD40 molecule	gene	DOID:1936	atherosclerosis		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD		associated with Gram-Negative Bacterial Infections;protein:increased expression:aorta	PMID:20505314|REF_RGD_ID:5490534
12053393	CD40	CD40 molecule	gene	DOID:1936	atherosclerosis		ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:16317521|REF_RGD_ID:1582628
12053393	CD40	CD40 molecule	gene	DOID:2018	hyperinsulinism		ISO	RGD:1604657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29035695
12053393	CD40	CD40 molecule	gene	DOID:2234	focal epilepsy		ISO	RGD:1604657	D	RGD:8554872	20230221	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:32581362
12053393	CD40	CD40 molecule	gene	DOID:224	transient cerebral ischemia	severity	ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:15795333|REF_RGD_ID:11352234
12053393	CD40	CD40 molecule	gene	DOID:2377	multiple sclerosis		ISO	RGD:1604657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19525955
12053393	CD40	CD40 molecule	gene	DOID:2377	multiple sclerosis	susceptibility	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		DNA:SNP:5' utr:c.-1C>T (rs1883832) (human)	PMID:20634952|REF_RGD_ID:5490971
12053393	CD40	CD40 molecule	gene	DOID:2377	multiple sclerosis	susceptibility	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		DNA:SNP:enhancer:g.-6787C>T (rs6074022) (human)	PMID:20190274|REF_RGD_ID:5490975
12053393	CD40	CD40 molecule	gene	DOID:2841	asthma		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:19159017|PMID:19220210|REF_RGD_ID:4144188|REF_RGD_ID:5132272
12053393	CD40	CD40 molecule	gene	DOID:2841	asthma		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:20941750|REF_RGD_ID:4892277
12053393	CD40	CD40 molecule	gene	DOID:2841	asthma	treatment	ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:20205594|REF_RGD_ID:8547792
12053393	CD40	CD40 molecule	gene	DOID:2942	bronchiolitis		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:19470255|REF_RGD_ID:5132271
12053393	CD40	CD40 molecule	gene	DOID:2959	hyperimmunoglobulin syndrome		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		DNA:mutations:exons (human)	PMID:11675497|REF_RGD_ID:1599479
12053393	CD40	CD40 molecule	gene	DOID:2972	renal artery obstruction	disease_progression	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:23399713|REF_RGD_ID:7248419
12053393	CD40	CD40 molecule	gene	DOID:3070	high grade glioma	treatment	ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:24878890|REF_RGD_ID:11352275
12053393	CD40	CD40 molecule	gene	DOID:3083	chronic obstructive pulmonary disease	severity	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:20699612|REF_RGD_ID:5490968
12053393	CD40	CD40 molecule	gene	DOID:3310	atopic dermatitis		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:18693155|REF_RGD_ID:5132274
12053393	CD40	CD40 molecule	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:21436454|REF_RGD_ID:5490301
12053393	CD40	CD40 molecule	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		protein:increased expression:dendritic cell	PMID:20976171|REF_RGD_ID:5490524
12053393	CD40	CD40 molecule	gene	DOID:3587	pancreatic ductal carcinoma		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:21436454|REF_RGD_ID:5490301
12053393	CD40	CD40 molecule	gene	DOID:3587	pancreatic ductal carcinoma	treatment	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:23983255|REF_RGD_ID:11522743
12053393	CD40	CD40 molecule	gene	DOID:3892	insulinoma		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:17982058|REF_RGD_ID:5491180
12053393	CD40	CD40 molecule	gene	DOID:3951	acute myocarditis		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:9495297|REF_RGD_ID:13702889
12053393	CD40	CD40 molecule	gene	DOID:4195	hyperglycemia		ISO	RGD:1604657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29035695
12053393	CD40	CD40 molecule	gene	DOID:4450	renal cell carcinoma	treatment	ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:12594303|PMID:15282531|PMID:20426873|REF_RGD_ID:11522744|REF_RGD_ID:7248440|REF_RGD_ID:7248724
12053393	CD40	CD40 molecule	gene	DOID:4481	allergic rhinitis		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		protein:increased expression:lymphocyte	PMID:19086656|REF_RGD_ID:8547782
12053393	CD40	CD40 molecule	gene	DOID:4780	anti-basement membrane glomerulonephritis		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:15210767|REF_RGD_ID:7248442
12053393	CD40	CD40 molecule	gene	DOID:5050	Ehrlich tumor carcinoma	treatment	ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:19269163|REF_RGD_ID:11352683
12053393	CD40	CD40 molecule	gene	DOID:526	human immunodeficiency virus infectious disease		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		protein:increased expression:plasmacytoid dendritic cell	PMID:20559432|REF_RGD_ID:5490533
12053393	CD40	CD40 molecule	gene	DOID:5810	adenosine deaminase deficiency		ISO	RGD:1604657	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	PMID:26255240|PMID:26376800|PMID:28492532
12053393	CD40	CD40 molecule	gene	DOID:630	genetic disease		ISO	RGD:1604657	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:28492532
12053393	CD40	CD40 molecule	gene	DOID:6432	pulmonary hypertension	treatment	ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:25998782|REF_RGD_ID:11344970
12053393	CD40	CD40 molecule	gene	DOID:6620	X-linked hyper IgM syndrome		ISO	RGD:1604657	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hyperimmunoglobulin M syndrome | ClinVar Annotator: match by term: X-linked hyper-IgM syndrome	PMID:25741868|PMID:29884852
12053393	CD40	CD40 molecule	gene	DOID:707	B-cell lymphoma		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:20616215|REF_RGD_ID:5490532
12053393	CD40	CD40 molecule	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1604657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18794853|PMID:20453842|PMID:23143596
12053393	CD40	CD40 molecule	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs4810485 (human)	PMID:20498205|REF_RGD_ID:5490972
12053393	CD40	CD40 molecule	gene	DOID:783	end stage renal disease	severity	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:20846521|REF_RGD_ID:7248723
12053393	CD40	CD40 molecule	gene	DOID:783	end stage renal disease	treatment	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:12941150|REF_RGD_ID:7248709
12053393	CD40	CD40 molecule	gene	DOID:7998	hyperthyroidism	treatment	ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:16756463|REF_RGD_ID:8547761
12053393	CD40	CD40 molecule	gene	DOID:8283	peritonitis		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:15780086|REF_RGD_ID:7248438
12053393	CD40	CD40 molecule	gene	DOID:848	arthritis		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		associated with Lupus Erythematosus, Systemic;DNA:SNP: :rs73115010, rs6074028 (human)	PMID:23256180|REF_RGD_ID:7248721
12053393	CD40	CD40 molecule	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		protein:increased expression:peripheral blood, dendritic cell (human)	PMID:16527350|REF_RGD_ID:11520794
12053393	CD40	CD40 molecule	gene	DOID:8567	Hodgkin's lymphoma		ISO	RGD:1604657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:7621881
12053393	CD40	CD40 molecule	gene	DOID:8577	ulcerative colitis		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		protein:increased expression:intestine, epithelial cell	PMID:20133813|REF_RGD_ID:5490590
12053393	CD40	CD40 molecule	gene	DOID:8584	Burkitt lymphoma	treatment	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		human cell line in a mouse model	PMID:9192773|REF_RGD_ID:11520790
12053393	CD40	CD40 molecule	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:619830	D	RGD:9068941	20200609	RGD		protein:decreased expression:ileum	PMID:21240009|REF_RGD_ID:5490305
12053393	CD40	CD40 molecule	gene	DOID:874	bacterial pneumonia		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:20102413|REF_RGD_ID:5132268
12053393	CD40	CD40 molecule	gene	DOID:8778	Crohn's disease		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		protein:increased expression:intestine, epithelial cell	PMID:20133813|REF_RGD_ID:5490590
12053393	CD40	CD40 molecule	gene	DOID:8778	Crohn's disease	susceptibility	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		DNA:SNP:5' utr:c.-1C>T (rs1883832) (human)	PMID:20634952|REF_RGD_ID:5490971
12053393	CD40	CD40 molecule	gene	DOID:8893	psoriasis	susceptibility	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		DNA:SNP:intron: (rs4810485) (human)	PMID:21645569|REF_RGD_ID:5490300
12053393	CD40	CD40 molecule	gene	DOID:8923	skin melanoma	disease_progression	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:8952530|REF_RGD_ID:8547772
12053393	CD40	CD40 molecule	gene	DOID:8924	autoimmune thrombocytopenic purpura		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		protein:increased expression:peripheral blood, B lymphocyte (human)	PMID:17654056|REF_RGD_ID:11344977
12053393	CD40	CD40 molecule	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		associated with breast cancer;DNA:snps:5' utr, intron:c.-1T>C, c.51+914T>G (rs1883832, rs4810485) (human)	PMID:21912605|REF_RGD_ID:8547780
12053393	CD40	CD40 molecule	gene	DOID:9000403	Animal Mammary Neoplasms	treatment	ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:15922965|REF_RGD_ID:8547789
12053393	CD40	CD40 molecule	gene	DOID:9000469	Viral Myocarditis		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:10440754|REF_RGD_ID:13702887
12053393	CD40	CD40 molecule	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:619830	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:21574786|REF_RGD_ID:7248754
12053393	CD40	CD40 molecule	gene	DOID:9000808	Hypercholesterolemia	treatment	ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:21574786|REF_RGD_ID:7248754
12053393	CD40	CD40 molecule	gene	DOID:9000998	Brain Injuries	treatment	ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:23924471|REF_RGD_ID:7248749
12053393	CD40	CD40 molecule	gene	DOID:9001488	Human Influenza		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:19922665|REF_RGD_ID:5132270
12053393	CD40	CD40 molecule	gene	DOID:9001686	Acute Coronary Syndrome		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		DNA:SNP:5' utr:rs1883832 (human)	PMID:21091218|REF_RGD_ID:5490523
12053393	CD40	CD40 molecule	gene	DOID:9002153	Chronic Allograft Dysfunction	treatment	ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:22826618|REF_RGD_ID:11352297
12053393	CD40	CD40 molecule	gene	DOID:9002159	Liver Reperfusion Injury	treatment	ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:14741776|REF_RGD_ID:8547795
12053393	CD40	CD40 molecule	gene	DOID:9002227	B-Cell Chronic Lymphocytic Leukemia		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:20616215|REF_RGD_ID:5490532
12053393	CD40	CD40 molecule	gene	DOID:9002311	Experimental Autoimmune Myocarditis	treatment	ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:25297507|REF_RGD_ID:13702884
12053393	CD40	CD40 molecule	gene	DOID:9002457	Experimental Arthritis		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:20435931|REF_RGD_ID:5490544
12053393	CD40	CD40 molecule	gene	DOID:9002605	Delayed Hypersensitivity		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:15210767|REF_RGD_ID:7248442
12053393	CD40	CD40 molecule	gene	DOID:9002869	Schistosomiasis Mansoni	treatment	ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:10623823|REF_RGD_ID:11520789
12053393	CD40	CD40 molecule	gene	DOID:9003657	Perennial Allergic Rhinitis		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:20226305|REF_RGD_ID:5132269
12053393	CD40	CD40 molecule	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:12388354|REF_RGD_ID:5508171
12053393	CD40	CD40 molecule	gene	DOID:9004283	Transplant Rejection	disease_progression	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:15221125|REF_RGD_ID:7248441
12053393	CD40	CD40 molecule	gene	DOID:9004283	Transplant Rejection	treatment	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:14698004|REF_RGD_ID:8547788
12053393	CD40	CD40 molecule	gene	DOID:9004283	Transplant Rejection	treatment	ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:21472009|REF_RGD_ID:7248755
12053393	CD40	CD40 molecule	gene	DOID:9004484	Sepsis		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		protein:decreased nitrosylation:monocyte	PMID:20473113|REF_RGD_ID:5490974
12053393	CD40	CD40 molecule	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:21137078|REF_RGD_ID:8547744
12053393	CD40	CD40 molecule	gene	DOID:9005372	Inflammation		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 1	PMID:17804565|REF_RGD_ID:8547791
12053393	CD40	CD40 molecule	gene	DOID:9005930	Endotoxemia		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD		protein:decreased nitrosylation:macrophage	PMID:20473113|REF_RGD_ID:5490974
12053393	CD40	CD40 molecule	gene	DOID:9006223	Kidney Reperfusion Injury	treatment	ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:25993320|REF_RGD_ID:11251055
12053393	CD40	CD40 molecule	gene	DOID:9006332	Vascular Calcification		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		associated with Coronary Artery Disease	PMID:16494885|REF_RGD_ID:7248436
12053393	CD40	CD40 molecule	gene	DOID:9006372	Animal Helminthiasis		ISO	RGD:1615152	D	RGD:9068941	20200609	RGD		protein:increased expression:plasmacytoid dendritic cell	PMID:20702728|REF_RGD_ID:5490530
12053393	CD40	CD40 molecule	gene	DOID:9006623	Murine Acquired Immunodeficiency Syndrome	susceptibility	ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:12438641|REF_RGD_ID:11520795
12053393	CD40	CD40 molecule	gene	DOID:9006647	Experimental Autoimmune Neuritis		ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:17188497|REF_RGD_ID:5491181
12053393	CD40	CD40 molecule	gene	DOID:9006779	Discoid Lupus Erythematosus		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:18050371|REF_RGD_ID:8547765
12053393	CD40	CD40 molecule	gene	DOID:9006939	Lyme Neuroborreliosis		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid (human)	PMID:16463218|REF_RGD_ID:11352252
12053393	CD40	CD40 molecule	gene	DOID:9007096	Stroke		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		associated with Hypertension	PMID:20456428|REF_RGD_ID:5490543
12053393	CD40	CD40 molecule	gene	DOID:9007102	Myocardial Ischemia	treatment	ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:19565716|REF_RGD_ID:11352677
12053393	CD40	CD40 molecule	gene	DOID:9007110	Subacute Combined Degeneration		ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:16716410|REF_RGD_ID:2313422
12053393	CD40	CD40 molecule	gene	DOID:9007110	Subacute Combined Degeneration	treatment	ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:16716410|REF_RGD_ID:2313422
12053393	CD40	CD40 molecule	gene	DOID:9007355	Hashimoto Disease		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:17558708|REF_RGD_ID:8547767
12053393	CD40	CD40 molecule	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1604657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29035695
12053393	CD40	CD40 molecule	gene	DOID:9007899	Animal Viral Hepatitis	severity	ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:21360722|REF_RGD_ID:5490303
12053393	CD40	CD40 molecule	gene	DOID:9008538	Neisseriaceae Infections		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:19202131|REF_RGD_ID:5132273
12053393	CD40	CD40 molecule	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1604657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17043144
12053393	CD40	CD40 molecule	gene	DOID:9074	systemic lupus erythematosus		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs3765456 (human)	PMID:23256180|REF_RGD_ID:7248721
12053393	CD40	CD40 molecule	gene	DOID:9074	systemic lupus erythematosus	susceptibility	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs4810485 (human)	PMID:21914625|REF_RGD_ID:5490522
12053393	CD40	CD40 molecule	gene	DOID:9146	visceral leishmaniasis	treatment	ISO	RGD:1615152	D	RGD:9068941	20200609	RGD			PMID:14573667|REF_RGD_ID:8547750
12053393	CD40	CD40 molecule	gene	DOID:9182	pemphigus		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:21255096|REF_RGD_ID:5490304
12053393	CD40	CD40 molecule	gene	DOID:9201	lichen planus		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:18050371|REF_RGD_ID:8547765
12053393	CD40	CD40 molecule	gene	DOID:9513	plasma cell leukemia		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD			PMID:20616215|REF_RGD_ID:5490532
12053393	CD40	CD40 molecule	gene	DOID:9538	multiple myeloma	treatment	ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		human cells in a mouse model	PMID:10866315|REF_RGD_ID:11522720
12053393	CD40	CD40 molecule	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1604657	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:22505539|REF_RGD_ID:6893375
12053393	CD40	CD40 molecule	gene	DOID:9970	obesity		ISO	RGD:1604657	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29035695
12053393	CD40	CD40 molecule	gene	DOID:9970	obesity	treatment	ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:21670556|REF_RGD_ID:7248753
12053393	Cd40	CD40 molecule	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:619830	D	RGD:9068941	20200609	RGD			PMID:23984971|REF_RGD_ID:8547801
12053427	MTPN	myotrophin	gene	DOID:10763	hypertension		ISO	RGD:619806	D	RGD:9068941	20200609	RGD			PMID:12031792|PMID:12419325|REF_RGD_ID:1581046|REF_RGD_ID:632799
12053427	MTPN	myotrophin	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:732852	D	RGD:9068941	20240425	MouseDO			
12053427	MTPN	myotrophin	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1603905	D	RGD:9068941	20200609	RGD			PMID:8508536|REF_RGD_ID:1581048
12053427	MTPN	myotrophin	gene	DOID:4852	pleomorphic xanthoastrocytoma		ISO	RGD:1603905	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma	PMID:28299358
12053427	MTPN	myotrophin	gene	DOID:6000	congestive heart failure		ISO	RGD:732852	D	RGD:9068941	20240425	MouseDO			
12053427	MTPN	myotrophin	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:619806	D	RGD:9068941	20200609	RGD			PMID:10329199|REF_RGD_ID:1581047
12053427	MTPN	myotrophin	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1603905	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:25231249
12053435	ACYP2	acylphosphatase 2	gene	DOID:0060645	chronic recurrent multifocal osteomyelitis		ISO	RGD:1350765	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Chronic osteomyelitis	
12053455	AQP7	aquaporin 7	gene	DOID:0060180	colitis		ISO	RGD:736375	D	RGD:9068941	20200609	RGD		associated with Infection;mRNA, protein:decreased expression:colon	PMID:15338270|REF_RGD_ID:1626292
12053455	AQP7	aquaporin 7	gene	DOID:0060205	frontotemporal dementia and/or amyotrophic lateral sclerosis 6		ISO	RGD:736375	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	PMID:28492532
12053455	AQP7	aquaporin 7	gene	DOID:0080050	acromesomelic dysplasia, Maroteaux type		ISO	RGD:736375	D	RGD:8554872	20230314	ClinVar		ClinVar Annotator: match by term: Acromesomelic dysplasia 1, Maroteaux type	PMID:28492532
12053455	AQP7	aquaporin 7	gene	DOID:0111597	distal arthrogryposis type 1A		ISO	RGD:736375	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Arthrogryposis, distal, type 1A	PMID:28492532
12053455	AQP7	aquaporin 7	gene	DOID:11981	morbid obesity		ISO	RGD:736375	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:subcutaneous adipose tissue	PMID:17566090|REF_RGD_ID:1626289
12053455	AQP7	aquaporin 7	gene	DOID:8577	ulcerative colitis	severity	ISO	RGD:736375	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:colon	PMID:15338270|REF_RGD_ID:1626292
12053455	AQP7	aquaporin 7	gene	DOID:8778	Crohn's disease	severity	ISO	RGD:736375	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:colon	PMID:15338270|REF_RGD_ID:1626292
12053455	AQP7	aquaporin 7	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:736375	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17072980|PMID:25380136
12053455	AQP7	aquaporin 7	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736375	D	RGD:9068941	20200609	RGD		protein:increased expression:skeletal muscle:	PMID:29783856|REF_RGD_ID:13782361
12053455	AQP7	aquaporin 7	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:736375	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:28492532
12053455	AQP7	aquaporin 7	gene	DOID:9870	galactosemia		ISO	RGD:736375	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	PMID:28492532
12053455	AQP7	aquaporin 7	gene	DOID:9970	obesity		ISO	RGD:736375	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16325777
12053478	ACOT8	acyl-CoA thioesterase 8	gene	DOID:2234	focal epilepsy		ISO	RGD:70372	D	RGD:8554872	20230221	ClinVar		ClinVar Annotator: match by term: Focal-onset seizure	PMID:32581362
12053478	ACOT8	acyl-CoA thioesterase 8	gene	DOID:5810	adenosine deaminase deficiency		ISO	RGD:70372	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	PMID:26255240|PMID:26376800|PMID:28492532
12053478	ACOT8	acyl-CoA thioesterase 8	gene	DOID:9000240	T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations		ISO	RGD:70372	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations	PMID:22174160|PMID:28492532
12053488	TRAPPC13	trafficking protein particle complex subunit 13	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1605046	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12053515	HNRNPD	heterogeneous nuclear ribonucleoprotein D	gene	DOID:0060420	chromosome 4q21 deletion syndrome		ISO	RGD:733451	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome	
12053515	HNRNPD	heterogeneous nuclear ribonucleoprotein D	gene	DOID:4676	uremia	treatment	ISO	RGD:620365	D	RGD:9068941	20200609	RGD			PMID:16291838|REF_RGD_ID:10042968
12053515	HNRNPD	heterogeneous nuclear ribonucleoprotein D	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:620365	D	RGD:9068941	20200609	RGD		protein:increased expression:liver (rat)	PMID:22318685|REF_RGD_ID:10042977
12053515	HNRNPD	heterogeneous nuclear ribonucleoprotein D	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:733451	D	RGD:9068941	20200609	RGD		protein:increased expression:liver (human)	PMID:20102719|REF_RGD_ID:10042969
12053515	HNRNPD	heterogeneous nuclear ribonucleoprotein D	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:733451	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28300425|PMID:33057194|PMID:33874999
12053595	HYOU1	hypoxia up-regulated 1	gene	DOID:0050967	spinocerebellar ataxia type 17		ISO	RGD:1606826	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24413982
12053595	HYOU1	hypoxia up-regulated 1	gene	DOID:0060017	CD3epsilon deficiency		ISO	RGD:1606826	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: CD3epsilon deficiency	PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660
12053595	HYOU1	hypoxia up-regulated 1	gene	DOID:0060837	isolated microphthalmia 5		ISO	RGD:1606826	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Isolated microphthalmia 5	PMID:28492532
12053595	HYOU1	hypoxia up-regulated 1	gene	DOID:0070614	chromosome 11 partial duplication syndrome		ISO	RGD:1606826	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Distal trisomy 11q	PMID:25741868
12053595	HYOU1	hypoxia up-regulated 1	gene	DOID:0080690	RASopathy		ISO	RGD:1606826	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: RASopathy	PMID:28492532
12053595	HYOU1	hypoxia up-regulated 1	gene	DOID:0081330	glycogen storage disease Ib		ISO	RGD:1606826	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Glucose-6-phosphate transport defect	PMID:28492532
12053595	HYOU1	hypoxia up-regulated 1	gene	DOID:0110651	long QT syndrome 10		ISO	RGD:1606826	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Long QT syndrome 10	PMID:28492532
12053595	HYOU1	hypoxia up-regulated 1	gene	DOID:0110899	inflammatory bowel disease 28		ISO	RGD:1606826	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Inflammatory bowel disease 28	PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660
12053595	HYOU1	hypoxia up-regulated 1	gene	DOID:0111971	immunodeficiency 18		ISO	RGD:1606826	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 18	PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660
12053595	HYOU1	hypoxia up-regulated 1	gene	DOID:0111972	immunodeficiency 19		ISO	RGD:1606826	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 19	PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660
12053595	HYOU1	hypoxia up-regulated 1	gene	DOID:0111973	immunodeficiency 17		ISO	RGD:1606826	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 17 | ClinVar Annotator: match by term: Immunodeficiency 17, CD3 gamma deficient	PMID:14602880|PMID:15546002|PMID:1635567|PMID:17277165|PMID:24216686|PMID:24910257|PMID:25373860|PMID:26822028|PMID:28492532|PMID:8490660
12053595	HYOU1	hypoxia up-regulated 1	gene	DOID:0111974	immunodeficiency 59		ISO	RGD:1606826	D	RGD:7240710	20200826	OMIM			
12053595	HYOU1	hypoxia up-regulated 1	gene	DOID:0111974	immunodeficiency 59		ISO	RGD:1606826	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Granulocytopenia with immunoglobulin abnormality | ClinVar Annotator: match by term: HYOU1-related condition	PMID:17576681|PMID:25741868|PMID:27913302|PMID:28492532|PMID:9536098
12053595	HYOU1	hypoxia up-regulated 1	gene	DOID:5419	schizophrenia		ISO	RGD:1606826	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
12053595	HYOU1	hypoxia up-regulated 1	gene	DOID:9004100	Familial Atrial Fibrillation 14		ISO	RGD:1606826	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Atrial fibrillation, familial, 14	PMID:28492532
12053595	HYOU1	hypoxia up-regulated 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1606826	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:32581362
12053632	RBMS2	RNA binding motif single stranded interacting protein 2	gene	DOID:0110173	Charcot-Marie-Tooth disease axonal type 2U		ISO	RGD:1312477	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U	PMID:28492532
12053632	RBMS2	RNA binding motif single stranded interacting protein 2	gene	DOID:0110251	cataract 15 multiple types		ISO	RGD:1312477	D	RGD:8554872	20240716	ClinVar		ClinVar Annotator: match by term: Cataract 15 multiple types	PMID:28492532
12053632	RBMS2	RNA binding motif single stranded interacting protein 2	gene	DOID:607	paraplegia		ISO	RGD:1312477	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:28492532
12053632	RBMS2	RNA binding motif single stranded interacting protein 2	gene	DOID:9002394	INTERSTITIAL LUNG AND LIVER DISEASE		ISO	RGD:1312477	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Interstitial lung and liver disease	PMID:28492532
12053679	EXOC3L2	exocyst complex component 3 like 2	gene	DOID:0050778	Meckel syndrome		ISO	RGD:1605316	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Meckel-Gruber syndrome	PMID:27894351
12053679	EXOC3L2	exocyst complex component 3 like 2	gene	DOID:9009056	BRAIN MALFORMATION RENAL SYNDROME		ISO	RGD:1605316	D	RGD:7240710	20241009	OMIM			
12053679	EXOC3L2	exocyst complex component 3 like 2	gene	DOID:9009056	BRAIN MALFORMATION RENAL SYNDROME		ISO	RGD:1605316	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: BRAIN MALFORMATION RENAL SYNDROME | ClinVar Annotator: match by term: EXOC3L2-related condition	PMID:27894351|PMID:28492532|PMID:28749478|PMID:30327448|PMID:34974531
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1605701	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Rod-cone dystrophy	PMID:18313024|PMID:20603202|PMID:24355708|PMID:25480986|PMID:25741868|PMID:28492532|PMID:31135245|PMID:31712030|PMID:3963113|PMID:8053762
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1605701	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25033069|PMID:25359264|PMID:25741868|PMID:28492532|PMID:34234304|PMID:34445196|PMID:35069422|PMID:35872528
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:0050952	spastic ataxia		ISO	RGD:1605701	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868|PMID:28492532|PMID:32579787
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:0080490	mucolipidosis type IV		ISO	RGD:1605701	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Mucolipidosis type IV	PMID:11030752|PMID:11317355|PMID:25741868|PMID:26467025|PMID:28492532
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:0090078	hypogonadotropic hypogonadism 7 with or without anosmia		ISO	RGD:1605701	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 7 with or without anosmia	PMID:25033069|PMID:25359264|PMID:25741868|PMID:28492532|PMID:34234304|PMID:34445196|PMID:35069422|PMID:35872528
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:0110790	hereditary spastic paraplegia 39		ISO	RGD:1605701	D	RGD:7240710	20180130	OMIM			
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:0110790	hereditary spastic paraplegia 39		ISO	RGD:1605701	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 39 | ClinVar Annotator: match by term: NTE related motor neuron disorder | ClinVar Annotator: match by term: Spastic paraplegia 39	PMID:16199547|PMID:17576681|PMID:18313024|PMID:20603202|PMID:23733235|PMID:24355708|PMID:25033069|PMID:25133958|PMID:25267340|PMID:25299038|PMID:25359264|PMID:25480986|PMID:2557489|PMID:25574898|PMID:25741868|PMID:26467025|PMID:26995604|PMID:27866050|PMID:28492532|PMID:28559085|PMID:29221171|PMID:29248984|PMID:29749493|PMID:30097146|PMID:30555943|PMID:30564185|PMID:31048186|PMID:31135245|PMID:31712030|PMID:31780887|PMID:31964843|PMID:32579787|PMID:32586184|PMID:32623594|PMID:32758583|PMID:32870266|PMID:33141049|PMID:33210227|PMID:34103343|PMID:34234304|PMID:34256108|PMID:34426522|PMID:34445196|PMID:34816117|PMID:35069422|PMID:35198007|PMID:35872528|PMID:36825042|PMID:38735647|PMID:3963113|PMID:8053762|PMID:9536098
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:0110925	familial hemophagocytic lymphohistiocytosis 5		ISO	RGD:1605701	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Familial hemophagocytic lymphohistiocytosis 5	PMID:28492532
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:0111265	Boucher-Neuhauser syndrome		ISO	RGD:1605701	D	RGD:7240710	20180130	OMIM			
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:0111265	Boucher-Neuhauser syndrome		ISO	RGD:1605701	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Ataxia-hypogonadism-choroidal dystrophy syndrome | ClinVar Annotator: match by term: Chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism	PMID:16199547|PMID:18313024|PMID:20603202|PMID:23733235|PMID:24355708|PMID:25033069|PMID:25267340|PMID:25299038|PMID:25359264|PMID:25480986|PMID:2557489|PMID:25574898|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29248984|PMID:30555943|PMID:31135245|PMID:31780887|PMID:32623594|PMID:33141049|PMID:34234304|PMID:34445196|PMID:35069422|PMID:35872528|PMID:36825042|PMID:38735647|PMID:3963113|PMID:8053762|PMID:9321767
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:0111271	Oliver-McFarlane syndrome		ISO	RGD:1605701	D	RGD:7240710	20180130	OMIM			
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:0111271	Oliver-McFarlane syndrome		ISO	RGD:1605701	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Trichomegaly-retina pigmentary degeneration-dwarfism syndrome	PMID:18313024|PMID:20603202|PMID:23733235|PMID:24355708|PMID:25299038|PMID:25480986|PMID:25574898|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31135245|PMID:31780887|PMID:38735647|PMID:3963113|PMID:8053762
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:0111587	Gordon Holmes syndrome		ISO	RGD:1605701	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia-hypogonadism syndrome	PMID:25741868
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:1389	polyneuropathy		ISO	RGD:1605701	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22819951
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:13938	amenorrhea		ISO	RGD:1605701	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Amenorrhea	PMID:28492532|PMID:32870266
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:1930	Laurence-Moon syndrome		ISO	RGD:1605701	D	RGD:7240710	20180130	OMIM			
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:1930	Laurence-Moon syndrome		ISO	RGD:1605701	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Laurence-Moon syndrome	PMID:18313024|PMID:20603202|PMID:23733235|PMID:24355708|PMID:25299038|PMID:25480986|PMID:25574898|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31135245|PMID:38735647|PMID:3963113|PMID:8053762
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:231	motor neuron disease		ISO	RGD:1605701	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18313024|PMID:20603202
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1605701	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia | ClinVar Annotator: match by term: Spastic Paraplegia, Recessive	PMID:18313024|PMID:20603202|PMID:23733235|PMID:24355708|PMID:25033069|PMID:25133958|PMID:25299038|PMID:25359264|PMID:25480986|PMID:25574898|PMID:25741868|PMID:26467025|PMID:26995604|PMID:27866050|PMID:28492532|PMID:29221171|PMID:29248984|PMID:30555943|PMID:30564185|PMID:31048186|PMID:31135245|PMID:33141049|PMID:34426522|PMID:38735647|PMID:3963113|PMID:8053762
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:2710	sick building syndrome		ISO	RGD:1605701	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23418070
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1605701	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis	PMID:25741868|PMID:28492532|PMID:32579787
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:3614	Kallmann syndrome		ISO	RGD:1605701	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypogonadism with anosmia	PMID:25741868
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:5723	optic atrophy		ISO	RGD:1605701	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1605701	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:25741868|PMID:28492532
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:630	genetic disease		ISO	RGD:1605701	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary disease | ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:18313024|PMID:20603202|PMID:23733235|PMID:24355708|PMID:25133958|PMID:25299038|PMID:25480986|PMID:25574898|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31135245|PMID:38735647|PMID:3963113|PMID:8053762|PMID:9536098
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:8501	fundus dystrophy		ISO	RGD:1605701	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:16199547|PMID:18313024|PMID:20603202|PMID:23733235|PMID:24355708|PMID:25299038|PMID:25359264|PMID:25480986|PMID:2557489|PMID:25574898|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31135245|PMID:38735647|PMID:3963113|PMID:8053762
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:863	nervous system disease		ISO	RGD:1605701	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:8211998
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:870	neuropathy		ISO	RGD:1605701	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Peripheral neuropathy	PMID:25741868|PMID:28492532
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:9001722	Dysarthria		ISO	RGD:1605701	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Dysarthria	PMID:25033069|PMID:25359264|PMID:25741868|PMID:28492532|PMID:34234304|PMID:34445196|PMID:35069422|PMID:35872528
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:9002563	Gait Ataxia		ISO	RGD:1605701	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Gait ataxia	PMID:25033069|PMID:25359264|PMID:25741868|PMID:28492532|PMID:34234304|PMID:34445196|PMID:35069422|PMID:35872528
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1605701	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868|PMID:28492532
12053713	PNPLA6	patatin like phospholipase domain containing 6	gene	DOID:9007284	Precocious Puberty		ISO	RGD:1605701	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Peripheral precocious puberty	
12053764	WNT5B	Wnt family member 5B	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1346792	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
12053764	WNT5B	Wnt family member 5B	gene	DOID:127	leiomyoma		ISO	RGD:1346792	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15972578
12053764	WNT5B	Wnt family member 5B	gene	DOID:127	leiomyoma		ISO	RGD:1346792	D	RGD:9068941	20200609	RGD		Uterine leiomyoma;  mRNA:increased expression:leiomyoma smooth muscle cells (SMCs):vs matched myometrial SMCs	PMID:15972578|REF_RGD_ID:2298808
12053764	WNT5B	Wnt family member 5B	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1346792	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
12053764	WNT5B	Wnt family member 5B	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:1551592	D	RGD:9068941	20200609	RGD		in vitro transformation of transfected C57MG mammary epithelial cell line	PMID:8065359|REF_RGD_ID:2298863
12053764	WNT5B	Wnt family member 5B	gene	DOID:9005233	Experimental Mammary Neoplasms	no_association	ISO	RGD:1551592	D	RGD:9068941	20200609	RGD		in vitro transformation of transfected C57MG mammary epithelial cell line	PMID:9419423|REF_RGD_ID:2298848
12053764	WNT5B	Wnt family member 5B	gene	DOID:9007992	Hyperphosphatemic Familial Tumoral Calcinosis 1		ISO	RGD:1346792	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1	PMID:25378588|PMID:29389098
12053775	SALL1	spalt like transcription factor 1	gene	DOID:0050678	Blau syndrome		ISO	RGD:1320515	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Blau syndrome	PMID:28492532
12053775	SALL1	spalt like transcription factor 1	gene	DOID:0050887	Townes-Brocks syndrome		ISO	RGD:1320515	D	RGD:7240710	20180130	OMIM			
12053775	SALL1	spalt like transcription factor 1	gene	DOID:0050887	Townes-Brocks syndrome		ISO	RGD:1320515	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Deafness, sensorineural, with imperforate anus and hypoplastic thumbs | ClinVar Annotator: match by term: SALL1-related condition | ClinVar Annotator: match by term: Townes syndrome | ClinVar Annotator: match by term: Townes-Brocks syndrome 1 | ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome	PMID:10533063|PMID:10819639|PMID:10928856|PMID:11102974|PMID:11478532|PMID:11484202|PMID:12915476|PMID:14627694|PMID:14755477|PMID:16088922|PMID:16429401|PMID:16971658|PMID:17221874|PMID:17431915|PMID:17576681|PMID:18000979|PMID:19005989|PMID:19429598|PMID:20301618|PMID:22308078|PMID:23069192|PMID:23894113|PMID:24429398|PMID:25336016|PMID:25741868|PMID:25741886|PMID:26380986|PMID:26467025|PMID:26489027|PMID:27073431|PMID:27657687|PMID:28492532|PMID:29395072|PMID:29758562|PMID:30143558|PMID:30311386|PMID:30655312|PMID:32656166|PMID:36474027|PMID:8133838|PMID:9425907|PMID:9536098|PMID:9973281
12053775	SALL1	spalt like transcription factor 1	gene	DOID:0080205	CAKUT		ISO	RGD:1320515	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract	PMID:25741868|PMID:28492532|PMID:30143558
12053775	SALL1	spalt like transcription factor 1	gene	DOID:0111122	nephronophthisis 14		ISO	RGD:1320515	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Nephronophthisis 14	PMID:12915476|PMID:16088922|PMID:16429401|PMID:22308078|PMID:23069192|PMID:25336016|PMID:28492532|PMID:9973281
12053775	SALL1	spalt like transcription factor 1	gene	DOID:0111766	X-linked VACTERL association		ISO	RGD:1320515	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: VACTERL-H	PMID:25741868
12053775	SALL1	spalt like transcription factor 1	gene	DOID:10907	microcephaly		ISO	RGD:1320515	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12053775	SALL1	spalt like transcription factor 1	gene	DOID:14766	renal agenesis		ISO	RGD:1320516	D	RGD:9068941	20221103	RGD			PMID:11688560|REF_RGD_ID:155641230
12053775	SALL1	spalt like transcription factor 1	gene	DOID:2810	middle lobe syndrome		ISO	RGD:1320515	D	RGD:9068941	20200609	RGD		Townes-Brocks syndrome. OMIM:602218	PMID:11102974|PMID:16088922|REF_RGD_ID:1599551|REF_RGD_ID:1599553
12053775	SALL1	spalt like transcription factor 1	gene	DOID:5176	renal Wilms' tumor		ISO	RGD:1320515	D	RGD:9068941	20221103	RGD		human tumor in mouse model	PMID:18467665|REF_RGD_ID:155631277
12053775	SALL1	spalt like transcription factor 1	gene	DOID:630	genetic disease		ISO	RGD:1320515	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12053775	SALL1	spalt like transcription factor 1	gene	DOID:687	hepatoblastoma		ISO	RGD:1320515	D	RGD:9068941	20200609	RGD		embryonal subtype;protein:increased expression:liver, nucleus (human)	PMID:23822878|REF_RGD_ID:11556217
12053775	SALL1	spalt like transcription factor 1	gene	DOID:784	chronic kidney disease	treatment	ISO	RGD:1320515	D	RGD:9068941	20221103	RGD		human cells in rat model	PMID:33298161|REF_RGD_ID:155631310
12053775	SALL1	spalt like transcription factor 1	gene	DOID:9004452	Townes-Brocks-Branchiootorenal-Like Syndrome		ISO	RGD:1320515	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Townes-Brocks-branchiootorenal-like syndrome	PMID:10928856|PMID:14755477|PMID:16088922|PMID:23069192|PMID:28492532|PMID:9973281
12053775	SALL1	spalt like transcription factor 1	gene	DOID:9004994	Embryo Loss		ISO	RGD:1320516	D	RGD:9068941	20221103	RGD			PMID:11688560|REF_RGD_ID:155641230
12053775	SALL1	spalt like transcription factor 1	gene	DOID:9005835	Congenital Abnormalities		ISO	RGD:1320515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20127799
12053775	SALL1	spalt like transcription factor 1	gene	DOID:9006294	Congenital Limb Deformities		ISO	RGD:1320515	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16088922|PMID:9425907
12053775	SALL1	spalt like transcription factor 1	gene	DOID:9007653	Multiple Abnormalities		ISO	RGD:1320515	D	RGD:9068941	20200609	RGD		Townes-Brocks syndrome. OMIM:602218	PMID:11102974|PMID:16088922|REF_RGD_ID:1599551|REF_RGD_ID:1599553
12053775	SALL1	spalt like transcription factor 1	gene	DOID:9008870	Chromosome 16q12 Duplication Syndrome		ISO	RGD:1320515	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome	PMID:25741868
12053786	MYO5C	myosin VC	gene	DOID:2717	Bloom syndrome		ISO	RGD:1320640	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Bloom syndrome	PMID:28492532
12053786	MYO5C	myosin VC	gene	DOID:303	substance-related disorder		ISO	RGD:1320640	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
12053786	MYO5C	myosin VC	gene	DOID:607	paraplegia		ISO	RGD:1320640	D	RGD:8554872	20230314	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:21620353|PMID:21937992|PMID:23472171|PMID:28492532|PMID:30237576|PMID:30732576|PMID:31688942
12053786	MYO5C	myosin VC	gene	DOID:9256	colorectal cancer		ISO	RGD:1320640	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Familial colorectal cancer	PMID:28492532
12053832	EHHADH	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase	gene	DOID:0080757	Fanconi renotubular syndrome 1		ISO	RGD:1349142	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Fanconi renotubular syndrome 1	PMID:25741868
12053832	EHHADH	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase	gene	DOID:0080759	Fanconi renotubular syndrome 3		ISO	RGD:1349142	D	RGD:7240710	20190327	OMIM			
12053832	EHHADH	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase	gene	DOID:0080759	Fanconi renotubular syndrome 3		ISO	RGD:1349142	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: EHHADH-related condition | ClinVar Annotator: match by term: Fanconi renotubular syndrome 3	PMID:1627757|PMID:24401050|PMID:25741868|PMID:28492532|PMID:35738466|PMID:36134613
12053832	EHHADH	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase	gene	DOID:0111546	Currarino syndrome		ISO	RGD:1349142	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Currarino triad	PMID:21681106|PMID:27549440
12053832	EHHADH	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase	gene	DOID:1062	Fanconi syndrome		ISO	RGD:1349142	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	
12053832	EHHADH	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase	gene	DOID:13580	cholestasis		ISO	RGD:1349142	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Cholestasis	PMID:25741868|PMID:28492532
12053832	EHHADH	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase	gene	DOID:303	substance-related disorder		ISO	RGD:1349142	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20098672
12053832	EHHADH	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase	gene	DOID:784	chronic kidney disease		ISO	RGD:1349142	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Chronic kidney disease	PMID:25741868|PMID:28492532
12053832	EHHADH	enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1349142	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29610475
12053846	LOC488617	olfactory receptor 6K6	gene	DOID:0081242	autoimmune interstitial lung, joint, and kidney disease		ISO	RGD:1351378	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome	PMID:28492532
12053846	LOC488617	olfactory receptor 6K6	gene	DOID:1540	parathyroid carcinoma		ISO	RGD:1351378	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Parathyroid carcinoma	PMID:28492532
12053846	LOC488617	olfactory receptor 6K6	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1351378	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:28492532
12053847	IFT140	intraflagellar transport 140	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1605413	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy	PMID:16199547|PMID:17576681|PMID:22503633|PMID:23418020|PMID:24009529|PMID:25741868|PMID:26216056|PMID:28288023|PMID:28492532|PMID:28559085|PMID:28724397|PMID:29068549|PMID:29688594|PMID:30773290|PMID:31589614|PMID:31964843|PMID:32483926|PMID:34429528|PMID:34890546|PMID:35140360|PMID:9536098
12053847	IFT140	intraflagellar transport 140	gene	DOID:0080322	polycystic kidney disease		ISO	RGD:1605413	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Polycystic kidney disease	PMID:16199547|PMID:22282595|PMID:22503633|PMID:23418020|PMID:24009529|PMID:25741868|PMID:26216056|PMID:26968735|PMID:28492532|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:34890546|PMID:35649421
12053847	IFT140	intraflagellar transport 140	gene	DOID:0080325	tuberous sclerosis 2		ISO	RGD:1605413	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Tuberous sclerosis 2	PMID:16114042|PMID:17287951|PMID:20498439|PMID:28492532|PMID:29932062
12053847	IFT140	intraflagellar transport 140	gene	DOID:0110085	asphyxiating thoracic dystrophy 1		ISO	RGD:1605413	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Chondroectodermal dysplasia-like syndrome | ClinVar Annotator: match by term: Short-rib thoracic dysplasia 1 with or without polydactyly	PMID:17576681|PMID:22503633|PMID:23418020|PMID:24009529|PMID:25741868|PMID:26216056|PMID:28288023|PMID:28492532|PMID:28559085|PMID:28724397|PMID:29068549|PMID:29688594|PMID:30773290|PMID:9536098
12053847	IFT140	intraflagellar transport 140	gene	DOID:0110097	short-rib thoracic dysplasia 9 with or without polydactyly		ISO	RGD:1605413	D	RGD:7240710	20180130	OMIM			
12053847	IFT140	intraflagellar transport 140	gene	DOID:0110097	short-rib thoracic dysplasia 9 with or without polydactyly		ISO	RGD:1605413	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Saldino-Mainzer syndrome | ClinVar Annotator: match by term: Short-rib thoracic dysplasia without polydactyly	PMID:16199547|PMID:17576681|PMID:19370764|PMID:20301784|PMID:22282595|PMID:22503633|PMID:23418020|PMID:24009529|PMID:24183451|PMID:24698627|PMID:25640679|PMID:25741868|PMID:26216056|PMID:26359340|PMID:26766544|PMID:26968735|PMID:27058611|PMID:27874174|PMID:28041643|PMID:28288023|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28724397|PMID:28844315|PMID:28991257|PMID:29068549|PMID:29111861|PMID:29688594|PMID:29706353|PMID:29758562|PMID:29801666|PMID:30479745|PMID:30773290|PMID:30902645|PMID:31047384|PMID:31054281|PMID:31130284|PMID:31213501|PMID:31456290|PMID:31589614|PMID:31630094|PMID:31736247|PMID:31964843|PMID:31980526|PMID:32007091|PMID:32037395|PMID:32483926|PMID:32531858|PMID:32860008|PMID:32901917|PMID:33452237|PMID:33532864|PMID:33576794|PMID:33946315|PMID:34217267|PMID:34429528|PMID:34596737|PMID:34662339|PMID:34758253|PMID:34890546|PMID:34906470|PMID:35140360|PMID:35649421|PMID:36460718|PMID:9536098
12053847	IFT140	intraflagellar transport 140	gene	DOID:0111112	nephronophthisis 1		ISO	RGD:1605413	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: juvenile nephronophthisis	PMID:17576681|PMID:22503633|PMID:25741868|PMID:28288023|PMID:28492532|PMID:28559085|PMID:28724397|PMID:29068549|PMID:29688594|PMID:30773290|PMID:9536098
12053847	IFT140	intraflagellar transport 140	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1605413	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:16199547|PMID:22503633|PMID:23418020|PMID:24009529|PMID:25741868|PMID:26216056|PMID:26497376|PMID:26766544|PMID:26968735|PMID:28041643|PMID:28492532|PMID:28559085|PMID:29068549|PMID:29688594|PMID:30479745|PMID:31213501|PMID:31456290|PMID:31589614|PMID:31630094|PMID:31736247|PMID:3196484|PMID:31964843|PMID:31980526|PMID:32007091|PMID:32483926|PMID:32531858|PMID:33452237|PMID:34429528|PMID:34596737|PMID:34758253|PMID:34890546|PMID:34906470|PMID:35140360
12053847	IFT140	intraflagellar transport 140	gene	DOID:10907	microcephaly		ISO	RGD:1605413	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
12053847	IFT140	intraflagellar transport 140	gene	DOID:12712	nephronophthisis		ISO	RGD:1605413	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:17576681|PMID:22503633|PMID:25741868|PMID:28288023|PMID:28492532|PMID:28559085|PMID:28724397|PMID:28844315|PMID:29068549|PMID:29688594|PMID:29706353|PMID:30773290|PMID:9536098
12053847	IFT140	intraflagellar transport 140	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1605413	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:25741868
12053847	IFT140	intraflagellar transport 140	gene	DOID:1826	epilepsy		ISO	RGD:1605413	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:28492532
12053847	IFT140	intraflagellar transport 140	gene	DOID:1827	idiopathic generalized epilepsy		ISO	RGD:1605413	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Idiopathic generalized epilepsy	PMID:28492532
12053847	IFT140	intraflagellar transport 140	gene	DOID:2661	myoepithelioma		ISO	RGD:1605413	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Myoepithelial tumor	
12053847	IFT140	intraflagellar transport 140	gene	DOID:2975	cystic kidney disease		ISO	RGD:1605413	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Renal cyst	PMID:16199547|PMID:22282595|PMID:22503633|PMID:23418020|PMID:24009529|PMID:25741868|PMID:26216056|PMID:26968735|PMID:28492532|PMID:31589614|PMID:31630094|PMID:31736247|PMID:31964843|PMID:31980526|PMID:32037395|PMID:34890546|PMID:34906470|PMID:35649421
12053847	IFT140	intraflagellar transport 140	gene	DOID:557	kidney disease		ISO	RGD:1605413	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Kidney Diseases	PMID:32037395
12053847	IFT140	intraflagellar transport 140	gene	DOID:5723	optic atrophy		ISO	RGD:1605413	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868|PMID:28492532
12053847	IFT140	intraflagellar transport 140	gene	DOID:630	genetic disease		ISO	RGD:1605413	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:32901917|PMID:34217267
12053847	IFT140	intraflagellar transport 140	gene	DOID:8501	fundus dystrophy		ISO	RGD:1605413	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:16199547|PMID:17576681|PMID:22282595|PMID:22503633|PMID:23418020|PMID:24009529|PMID:25741868|PMID:26216056|PMID:26497376|PMID:26766544|PMID:26968735|PMID:28492532|PMID:29068549|PMID:29688594|PMID:30479745|PMID:30902645|PMID:31213501|PMID:31456290|PMID:31589614|PMID:31630094|PMID:31736247|PMID:3196484|PMID:31964843|PMID:31980526|PMID:32007091|PMID:32037395|PMID:32483926|PMID:32531858|PMID:32901917|PMID:33452237|PMID:33946315|PMID:34217267|PMID:34596737|PMID:34758253|PMID:34890546|PMID:35140360|PMID:35649421|PMID:36460718|PMID:9536098
12053847	IFT140	intraflagellar transport 140	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1605413	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease	PMID:16199547|PMID:22282595|PMID:22503633|PMID:23418020|PMID:24009529|PMID:25741868|PMID:26216056|PMID:26968735|PMID:28492532|PMID:31589614|PMID:31964843|PMID:31980526|PMID:32037395|PMID:34890546|PMID:35649421
12053847	IFT140	intraflagellar transport 140	gene	DOID:9009101	Retinitis Pigmentosa 80		ISO	RGD:1605413	D	RGD:7240710	20190315	OMIM			
12053847	IFT140	intraflagellar transport 140	gene	DOID:9009101	Retinitis Pigmentosa 80		ISO	RGD:1605413	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene | ClinVar Annotator: match by term: Retinitis pigmentosa 80	PMID:16199547|PMID:17576681|PMID:22282595|PMID:22503633|PMID:23418020|PMID:24009529|PMID:24698627|PMID:25741868|PMID:26216056|PMID:26359340|PMID:26766544|PMID:26968735|PMID:28288023|PMID:28492532|PMID:28512305|PMID:28559085|PMID:28724397|PMID:29068549|PMID:29111861|PMID:29688594|PMID:30479745|PMID:30773290|PMID:31047384|PMID:31054281|PMID:31130284|PMID:31589614|PMID:31630094|PMID:31736247|PMID:31964843|PMID:31980526|PMID:32007091|PMID:32037395|PMID:32531858|PMID:32860008|PMID:34429528|PMID:34596737|PMID:34758253|PMID:34890546|PMID:34906470|PMID:35649421|PMID:9536098
12053869	SMAD7	SMAD family member 7	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1344957	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015|PMID:30061737
12053869	SMAD7	SMAD family member 7	gene	DOID:0060407	chromosome 18q deletion syndrome		ISO	RGD:1344957	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Monosomy 18q, deletion 18q	PMID:31690835
12053869	SMAD7	SMAD family member 7	gene	DOID:1059	intellectual disability		ISO	RGD:1344957	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12053869	SMAD7	SMAD family member 7	gene	DOID:10952	nephritis		ISO	RGD:69314	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:kidney	PMID:11170839|REF_RGD_ID:2315074
12053869	SMAD7	SMAD family member 7	gene	DOID:1380	endometrial cancer	disease_progression	ISO	RGD:1344957	D	RGD:9068941	20200609	RGD		mRNA:increased expression:endometrium	PMID:15661223|REF_RGD_ID:2299963
12053869	SMAD7	SMAD family member 7	gene	DOID:1793	pancreatic cancer		ISO	RGD:1344957	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreas (human)	PMID:10498890|REF_RGD_ID:14394510
12053869	SMAD7	SMAD family member 7	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1344957	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:23590892
12053869	SMAD7	SMAD family member 7	gene	DOID:4074	pancreatic adenocarcinoma	severity	ISO	RGD:1344957	D	RGD:9068941	20200609	RGD		human cell and construct in a mouse model	PMID:10498890|REF_RGD_ID:14394510
12053869	SMAD7	SMAD family member 7	gene	DOID:5082	liver cirrhosis		ISO	RGD:1344957	D	RGD:9068941	20200609	RGD		associated with hepatocellular carcinoma; mRNA:increased expression:liver (human)	PMID:25602745|REF_RGD_ID:14401589
12053869	SMAD7	SMAD family member 7	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1344957	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868
12053869	SMAD7	SMAD family member 7	gene	DOID:6432	pulmonary hypertension		ISO	RGD:69314	D	RGD:9068941	20200609	RGD			PMID:17347486|REF_RGD_ID:1643222
12053869	SMAD7	SMAD family member 7	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1344957	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver (human)	PMID:25602745|REF_RGD_ID:14401589
12053869	SMAD7	SMAD family member 7	gene	DOID:9001929	Hypoglossal Nerve Injuries		ISO	RGD:69314	D	RGD:9068941	20200609	RGD		mRNA:increased expression:hypoglossal nucleus	PMID:17166487|REF_RGD_ID:1643227
12053869	SMAD7	SMAD family member 7	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:1344957	D	RGD:9068941	20200609	RGD		DNA:polymorphism:cds	PMID:11078792|REF_RGD_ID:2300008
12053869	SMAD7	SMAD family member 7	gene	DOID:9004018	Paraquat Lung		ISO	RGD:1344957	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:23590892
12053869	SMAD7	SMAD family member 7	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1344957	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17934461
12053869	SMAD7	SMAD family member 7	gene	DOID:9256	colorectal cancer		ISO	RGD:1344957	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: Colorectal cancer, susceptibility to, 3 | ClinVar Annotator: match by term: SMAD7-related condition	PMID:17934461|PMID:18372901|PMID:18372905|PMID:25741868|PMID:28492532
12053869	SMAD7	SMAD family member 7	gene	DOID:9256	colorectal cancer	susceptibility	ISO	RGD:1344957	D	RGD:7240710	20200226	OMIM			
12053879	CBLN3	cerebellin 3 precursor	gene	DOID:0060439	lysinuric protein intolerance		ISO	RGD:1343800	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Lysinuric protein intolerance	PMID:28492532
12053879	CBLN3	cerebellin 3 precursor	gene	DOID:9000265	Specific Granule Deficiency		ISO	RGD:1343800	D	RGD:8554872	20230314	ClinVar		ClinVar Annotator: match by term: Specific granule deficiency	PMID:28492532
12053879	CBLN3	cerebellin 3 precursor	gene	DOID:9004758	Brain-Lung-Thyroid Syndrome		ISO	RGD:1343800	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Brain-lung-thyroid syndrome	PMID:25741868
12053886	MICU3	mitochondrial calcium uptake family member 3	gene	DOID:0110805	hereditary spastic paraplegia 53		ISO	RGD:1344142	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 53	PMID:28492532
12053906	TRMT1L	tRNA methyltransferase 1 like	gene	DOID:11372	megacolon		ISO	RGD:1317348	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Megacolon	PMID:21681106
12053906	TRMT1L	tRNA methyltransferase 1 like	gene	DOID:1540	parathyroid carcinoma		ISO	RGD:1317348	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Parathyroid carcinoma	PMID:28492532
12053906	TRMT1L	tRNA methyltransferase 1 like	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1317348	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:28492532
12053928	LGR5	leucine rich repeat containing G protein-coupled receptor 5	gene	DOID:0060604	ankyloglossia		ISO	RGD:1550798	D	RGD:9068941	20220825	MouseDO		OMIM:106280	
12053928	LGR5	leucine rich repeat containing G protein-coupled receptor 5	gene	DOID:2513	basal cell carcinoma		ISO	RGD:1605118	D	RGD:9068941	20240606	CTD		CTD Direct Evidence: marker/mechanism	PMID:36428691
12053928	LGR5	leucine rich repeat containing G protein-coupled receptor 5	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1605118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21188121
12053928	LGR5	leucine rich repeat containing G protein-coupled receptor 5	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1605118	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25280562
12053950	LOC611536	C-type lectin domain family 4 member D	gene	DOID:0060708	lymphoproliferative syndrome 2		ISO	RGD:1347298	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Lymphoproliferative syndrome 2	PMID:28492532
12053950	LOC611536	C-type lectin domain family 4 member D	gene	DOID:0060758	immunodeficiency with hyper-IgM type 2		ISO	RGD:1347298	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hyper-IgM syndrome type 2	PMID:16964591|PMID:28492532
12053950	LOC611536	C-type lectin domain family 4 member D	gene	DOID:0080443	developmental and epileptic encephalopathy 21		ISO	RGD:1347298	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 21	PMID:18712838|PMID:21031596|PMID:24399846|PMID:28492532|PMID:30626896
12053950	LOC611536	C-type lectin domain family 4 member D	gene	DOID:0080591	Klippel-Feil syndrome 3		ISO	RGD:1347298	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Klippel-Feil syndrome 3, autosomal dominant	PMID:28492532
12053950	LOC611536	C-type lectin domain family 4 member D	gene	DOID:0080622	peroxisome biogenesis disorder 2B		ISO	RGD:1347298	D	RGD:8554872	20240716	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorder 2B	PMID:18712838|PMID:21031596|PMID:24399846|PMID:28492532|PMID:30626896
12053950	LOC611536	C-type lectin domain family 4 member D	gene	DOID:0111621	Temtamy syndrome		ISO	RGD:1347298	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Temtamy syndrome	PMID:28492532
12053950	LOC611536	C-type lectin domain family 4 member D	gene	DOID:850	lung disease		ISO	RGD:1347298	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21602193
12053950	LOC611536	C-type lectin domain family 4 member D	gene	DOID:9007992	Hyperphosphatemic Familial Tumoral Calcinosis 1		ISO	RGD:1347298	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Tumoral calcinosis, hyperphosphatemic, familial, 1	PMID:25378588|PMID:29389098
12053969	SAXO4	stabilizer of axonemal microtubules 4	gene	DOID:0050773	paraganglioma		ISO	RGD:735928	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas	PMID:22241717|PMID:26096992|PMID:28492532
12053969	SAXO4	stabilizer of axonemal microtubules 4	gene	DOID:0110912	leukocyte adhesion deficiency 3		ISO	RGD:735928	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Leukocyte adhesion deficiency 3	PMID:28492532
12053969	SAXO4	stabilizer of axonemal microtubules 4	gene	DOID:1059	intellectual disability		ISO	RGD:735928	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12053969	SAXO4	stabilizer of axonemal microtubules 4	gene	DOID:9005607	Hereditary Paraganglioma-Pheochromocytoma Syndromes		ISO	RGD:735928	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes	PMID:22241717|PMID:26096992|PMID:28492532
12053989	ZNF404	zinc finger protein 404	gene	DOID:0060640	ethylmalonic encephalopathy		ISO	RGD:1346088	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Ethylmalonic encephalopathy	PMID:28492532
12053989	ZNF404	zinc finger protein 404	gene	DOID:5419	schizophrenia		ISO	RGD:1346088	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
12053989	ZNF404	zinc finger protein 404	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1346088	D	RGD:9068941	20240912	CTD		CTD Direct Evidence: marker/mechanism	PMID:29915430
12054003	CYSTM1	cysteine rich transmembrane module containing 1	gene	DOID:0070061	autosomal dominant intellectual developmental disorder 31		ISO	RGD:1603605	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	PMID:28492532
12054003	CYSTM1	cysteine rich transmembrane module containing 1	gene	DOID:0080409	familial adenomatous polyposis 1		ISO	RGD:1603605	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Familial adenomatous polyposis 1	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
12054003	CYSTM1	cysteine rich transmembrane module containing 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1603605	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12054003	CYSTM1	cysteine rich transmembrane module containing 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1603605	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12054003	CYSTM1	cysteine rich transmembrane module containing 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1603605	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
12054028	FANCI	FA complementation group I	gene	DOID:0050671	female breast cancer	susceptibility	ISO	RGD:1605380	D	RGD:9068941	20220609	RGD		DNA:missense mutation:cds: (human)	PMID:30303537|REF_RGD_ID:152995259
12054028	FANCI	FA complementation group I	gene	DOID:0050865	tongue squamous cell carcinoma		ISO	RGD:1605380	D	RGD:9068941	20200609	RGD			PMID:17409780|REF_RGD_ID:11049143
12054028	FANCI	FA complementation group I	gene	DOID:0080119	mitochondrial DNA depletion syndrome 1		ISO	RGD:1605380	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 1	PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:22237560|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25488682|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28130605|PMID:28492532|PMID:30451971
12054028	FANCI	FA complementation group I	gene	DOID:0080122	Alpers-Huttenlocher syndrome		ISO	RGD:1605380	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Progressive sclerosing poliodystrophy	PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452773|PMID:17460694|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18546365|PMID:18991199|PMID:19010300|PMID:19538466|PMID:20691285|PMID:21038416|PMID:21228398|PMID:21880868|PMID:22189570|PMID:22237560|PMID:23430898|PMID:23524600|PMID:23783014|PMID:24033266|PMID:24086434|PMID:25462018|PMID:25488682|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28130605|PMID:28492532|PMID:28958595|PMID:30423451|PMID:30451971|PMID:30634555|PMID:31655921|PMID:33486010|PMID:35478072
12054028	FANCI	FA complementation group I	gene	DOID:0080123	mitochondrial DNA depletion syndrome 4B		ISO	RGD:1605380	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4B, MNGIE type | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 4b	PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:22237560|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25488682|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28130605|PMID:28492532|PMID:30451971
12054028	FANCI	FA complementation group I	gene	DOID:0080127	mitochondrial DNA depletion syndrome 8A		ISO	RGD:1605380	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION	PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:22237560|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25488682|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28130605|PMID:28492532|PMID:30451971
12054028	FANCI	FA complementation group I	gene	DOID:0111091	Fanconi anemia complementation group I		ISO	RGD:1605380	D	RGD:7240710	20180130	OMIM			
12054028	FANCI	FA complementation group I	gene	DOID:0111091	Fanconi anemia complementation group I		ISO	RGD:1605380	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Fanconi anemia complementation group I	PMID:16199547|PMID:17412408|PMID:17452773|PMID:17460694|PMID:17576681|PMID:17924555|PMID:18414213|PMID:18931676|PMID:20971953|PMID:21324748|PMID:22237560|PMID:22720145|PMID:22778927|PMID:23093618|PMID:23524600|PMID:23613520|PMID:24989076|PMID:25488682|PMID:25741868|PMID:25877891|PMID:26296701|PMID:26467025|PMID:26590883|PMID:27987238|PMID:28130605|PMID:28492532|PMID:28678401|PMID:28875981|PMID:28878254|PMID:29439820|PMID:30076350|PMID:30303537|PMID:30333958|PMID:30451971|PMID:30773290|PMID:30792206|PMID:31300551|PMID:32054657|PMID:32546565|PMID:33461977|PMID:33558524|PMID:34861889|PMID:36356413|PMID:36513378|PMID:9536098
12054028	FANCI	FA complementation group I	gene	DOID:0111095	Fanconi anemia complementation group A		ISO	RGD:1605380	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Fanconi anemia complementation group A	PMID:25741868|PMID:28492532
12054028	FANCI	FA complementation group I	gene	DOID:0111276	sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		ISO	RGD:1605380	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:22237560|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25488682|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28130605|PMID:28492532|PMID:30451971
12054028	FANCI	FA complementation group I	gene	DOID:0111352	D-2-hydroxyglutaric aciduria 2		ISO	RGD:1605380	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 2	PMID:17407155|PMID:28492532
12054028	FANCI	FA complementation group I	gene	DOID:0111521	autosomal dominant progressive external ophthalmoplegia 1		ISO	RGD:1605380	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:22237560|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25488682|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28130605|PMID:28492532|PMID:30451971
12054028	FANCI	FA complementation group I	gene	DOID:0111522	autosomal recessive progressive external ophthalmoplegia 1		ISO	RGD:1605380	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | ClinVar Annotator: match by term: Progressive external ophthalmoplegia, autosomal recessive 1	PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:22237560|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25488682|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28130605|PMID:28492532|PMID:30451971
12054028	FANCI	FA complementation group I	gene	DOID:0111991	immunodeficiency 62		ISO	RGD:1605380	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 62	PMID:25741868|PMID:28492532
12054028	FANCI	FA complementation group I	gene	DOID:10534	stomach cancer		ISO	RGD:1605380	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Gastric cancer	PMID:17452773|PMID:17460694|PMID:25741868|PMID:28492532|PMID:28875981
12054028	FANCI	FA complementation group I	gene	DOID:10907	microcephaly		ISO	RGD:1605380	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868|PMID:28492532
12054028	FANCI	FA complementation group I	gene	DOID:13636	Fanconi anemia		ISO	RGD:1605380	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:15477547|PMID:15689359|PMID:16177225|PMID:16199547|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452773|PMID:17460694|PMID:17576681|PMID:17924555|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:19737859|PMID:19763152|PMID:20307669|PMID:20691285|PMID:20971953|PMID:21038416|PMID:21228398|PMID:21324748|PMID:22406018|PMID:22720145|PMID:23093618|PMID:23613520|PMID:23783014|PMID:24033266|PMID:24989076|PMID:25462018|PMID:25741868|PMID:25877891|PMID:25927356|PMID:26104464|PMID:26296701|PMID:26467025|PMID:26590883|PMID:28492532|PMID:28678401|PMID:28878254|PMID:29439820|PMID:29891941|PMID:30076350|PMID:30303537|PMID:30333958|PMID:30773290|PMID:31470354|PMID:32054657|PMID:32235514|PMID:32546565|PMID:33558524|PMID:34585473|PMID:34861889|PMID:9536098
12054028	FANCI	FA complementation group I	gene	DOID:13636	Fanconi anemia		ISO	RGD:1605380	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia | ClinVar Annotator: match by term: Fanconi's anemia	PMID:15477547|PMID:15689359|PMID:16177225|PMID:16199547|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452773|PMID:17460694|PMID:17576681|PMID:17924555|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:19737859|PMID:19763152|PMID:20307669|PMID:20691285|PMID:20971953|PMID:21038416|PMID:21228398|PMID:21324748|PMID:22406018|PMID:22720145|PMID:23093618|PMID:23613520|PMID:23783014|PMID:24033266|PMID:24989076|PMID:25462018|PMID:25741868|PMID:25877891|PMID:25927356|PMID:26104464|PMID:26296701|PMID:26467025|PMID:26590883|PMID:28492532|PMID:28678401|PMID:28878254|PMID:29439820|PMID:29625052|PMID:29891941|PMID:30076350|PMID:30303537|PMID:30333958|PMID:30773290|PMID:31470354|PMID:32054657|PMID:32235514|PMID:32546565|PMID:33558524|PMID:34585473|PMID:34601666|PMID:34861889|PMID:36356413|PMID:36513378|PMID:9536098
12054028	FANCI	FA complementation group I	gene	DOID:13636	Fanconi anemia		ISO	RGD:1605380	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia	PMID:15477547|PMID:15689359|PMID:16177225|PMID:16199547|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452773|PMID:17460694|PMID:17576681|PMID:17924555|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18546365|PMID:18991199|PMID:19010300|PMID:19737859|PMID:19763152|PMID:20307669|PMID:20691285|PMID:20971953|PMID:21038416|PMID:21228398|PMID:21324748|PMID:22406018|PMID:22720145|PMID:23093618|PMID:23430898|PMID:23613520|PMID:23783014|PMID:24033266|PMID:24989076|PMID:25462018|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25927356|PMID:26104464|PMID:26296701|PMID:26467025|PMID:26590883|PMID:28492532|PMID:28678401|PMID:28875981|PMID:28878254|PMID:29439820|PMID:29625052|PMID:29891941|PMID:30076350|PMID:30303537|PMID:30333958|PMID:30773290|PMID:30792206|PMID:31300551|PMID:31470354|PMID:32054657|PMID:32235514|PMID:32546565|PMID:33558524|PMID:34585473|PMID:34601666|PMID:34861889|PMID:36356413|PMID:36513378|PMID:9536098
12054028	FANCI	FA complementation group I	gene	DOID:13636	Fanconi anemia		ISO	RGD:1605380	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Fanconi anemia | ClinVar Annotator: match by term: Fanconi pancytopenia	PMID:15477547|PMID:15689359|PMID:16177225|PMID:16199547|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17452773|PMID:17460694|PMID:17576681|PMID:17924555|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18546365|PMID:18991199|PMID:19010300|PMID:19737859|PMID:19763152|PMID:20307669|PMID:20691285|PMID:20971953|PMID:21038416|PMID:21228398|PMID:21324748|PMID:22237560|PMID:22406018|PMID:22720145|PMID:23093618|PMID:23430898|PMID:23613520|PMID:23783014|PMID:24033266|PMID:24989076|PMID:25462018|PMID:25488682|PMID:25640679|PMID:25741868|PMID:25877891|PMID:25927356|PMID:26104464|PMID:26296701|PMID:26467025|PMID:26590883|PMID:28130605|PMID:28492532|PMID:28678401|PMID:28875981|PMID:28878254|PMID:29439820|PMID:29625052|PMID:29891941|PMID:30076350|PMID:30303537|PMID:30333958|PMID:30451971|PMID:30773290|PMID:30792206|PMID:31300551|PMID:31470354|PMID:32054657|PMID:32235514|PMID:32546565|PMID:33461977|PMID:33558524|PMID:34585473|PMID:34601666|PMID:34861889|PMID:36356413|PMID:36513378|PMID:9536098
12054028	FANCI	FA complementation group I	gene	DOID:1612	breast cancer		ISO	RGD:1605380	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:25741868|PMID:28492532|PMID:33558524
12054028	FANCI	FA complementation group I	gene	DOID:1826	epilepsy		ISO	RGD:1605380	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:15477547|PMID:16177225|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:28492532
12054028	FANCI	FA complementation group I	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1605380	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:21880868|PMID:22237560|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25488682|PMID:25741868|PMID:26104464|PMID:26467025|PMID:28130605|PMID:28492532|PMID:30451971|PMID:35478072
12054028	FANCI	FA complementation group I	gene	DOID:2717	Bloom syndrome		ISO	RGD:1605380	D	RGD:8554872	20240716	ClinVar		ClinVar Annotator: match by term: Bloom syndrome	PMID:17407155|PMID:28492532
12054028	FANCI	FA complementation group I	gene	DOID:630	genetic disease		ISO	RGD:1605380	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:21880868|PMID:22237560|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25488682|PMID:25741868|PMID:26104464|PMID:26467025|PMID:28130605|PMID:28492532|PMID:30451971|PMID:35478072
12054028	FANCI	FA complementation group I	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1605380	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12054028	FANCI	FA complementation group I	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1605380	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: mitochondrial disorder	PMID:15477547|PMID:16177225|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:28492532
12054028	FANCI	FA complementation group I	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1605380	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: mitochondrial disorder	PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25741868|PMID:26104464|PMID:26467025|PMID:28492532
12054028	FANCI	FA complementation group I	gene	DOID:9001263	Mitochondrial DNA Depletion Syndrome, MNGIE Type		ISO	RGD:1605380	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION	PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:22237560|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25488682|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28130605|PMID:28492532|PMID:30451971
12054028	FANCI	FA complementation group I	gene	DOID:9003108	CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA		ISO	RGD:1605380	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia infantile with progressive external ophthalmoplegia	PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:22237560|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25488682|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28130605|PMID:28492532|PMID:30451971
12054028	FANCI	FA complementation group I	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605380	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:25741868
12054028	FANCI	FA complementation group I	gene	DOID:9008631	progressive myoclonus epilepsy 5		ISO	RGD:1605380	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Epilepsy, progressive myoclonic, type 5	PMID:15477547|PMID:15689359|PMID:16177225|PMID:16621917|PMID:17088268|PMID:17426723|PMID:17438011|PMID:17950645|PMID:17980715|PMID:18414213|PMID:18991199|PMID:19010300|PMID:20691285|PMID:21038416|PMID:21228398|PMID:22237560|PMID:23524600|PMID:23783014|PMID:24033266|PMID:25462018|PMID:25488682|PMID:25741868|PMID:26104464|PMID:26467025|PMID:27987238|PMID:28130605|PMID:28492532|PMID:30451971
12054028	FANCI	FA complementation group I	gene	DOID:9256	colorectal cancer		ISO	RGD:1605380	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Colorectal cancer | ClinVar Annotator: match by term: Familial colorectal cancer	PMID:25741868|PMID:28492532
12054076	CD1D	CD1d molecule	gene	DOID:0050749	peripheral T-cell lymphoma		ISO	RGD:1552895	D	RGD:9068941	20210709	RGD			PMID:27069116|REF_RGD_ID:11534789
12054076	CD1D	CD1d molecule	gene	DOID:10113	trypanosomiasis	exacerbates	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD			PMID:15731095|REF_RGD_ID:127345115
12054076	CD1D	CD1d molecule	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1353762	D	RGD:9068941	20210709	RGD		mRNA:splice variant:pyloric antrum (human))	PMID:26119195|REF_RGD_ID:11074500
12054076	CD1D	CD1d molecule	gene	DOID:12206	dengue hemorrhagic fever	disease_progression	ISO	RGD:1353762	D	RGD:9068941	20210709	RGD		protein:increased expression:cd14-positive monocyte (human)	PMID:24945350|REF_RGD_ID:127345113
12054076	CD1D	CD1d molecule	gene	DOID:12365	malaria	ameliorates	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD			PMID:12938235|REF_RGD_ID:127345117
12054076	CD1D	CD1d molecule	gene	DOID:12365	malaria	exacerbates	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD			PMID:24703850|REF_RGD_ID:127345121
12054076	CD1D	CD1d molecule	gene	DOID:1273	respiratory syncytial virus infectious disease	ameliorates	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD			PMID:32463330|REF_RGD_ID:127345107
12054076	CD1D	CD1d molecule	gene	DOID:1394	urinary schistosomiasis		ISO	RGD:1353762	D	RGD:9068941	20210709	RGD		protein:increased expression:B cell (human)	PMID:22347409|REF_RGD_ID:127345101
12054076	CD1D	CD1d molecule	gene	DOID:1540	parathyroid carcinoma		ISO	RGD:1353762	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Parathyroid carcinoma	PMID:28492532
12054076	CD1D	CD1d molecule	gene	DOID:2237	hepatitis	ameliorates	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD			PMID:24058536|REF_RGD_ID:127345120
12054076	CD1D	CD1d molecule	gene	DOID:2841	asthma	susceptibility	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD		associated with fasciolopsiasis	PMID:20304473|REF_RGD_ID:4140417
12054076	CD1D	CD1d molecule	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:1353762	D	RGD:9068941	20210709	RGD		DNA:SNPS, haplotype:intron, enhancer: (rs859009,rs859010, rs973742) (human)	PMID:30972222|REF_RGD_ID:127345096
12054076	CD1D	CD1d molecule	gene	DOID:3388	periodontal disease	ameliorates	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD			PMID:23586756|REF_RGD_ID:127345118
12054076	CD1D	CD1d molecule	gene	DOID:3944	Arenaviridae infectious disease		ISO	RGD:1552895	D	RGD:9068941	20210709	RGD			PMID:32153566|REF_RGD_ID:127345122
12054076	CD1D	CD1d molecule	gene	DOID:820	myocarditis	susceptibility	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD		associated with Coxsackievirus Infections	PMID:20121405|REF_RGD_ID:127345095
12054076	CD1D	CD1d molecule	gene	DOID:820	myocarditis	treatment	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD		associated with Coxsackievirus Infections	PMID:21050191|REF_RGD_ID:11340571
12054076	CD1D	CD1d molecule	gene	DOID:8566	herpes simplex	exacerbates	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD			PMID:18614643|REF_RGD_ID:127345112
12054076	CD1D	CD1d molecule	gene	DOID:8857	lupus erythematosus	ameliorates	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD			PMID:14561706|REF_RGD_ID:127345108
12054076	CD1D	CD1d molecule	gene	DOID:9000220	Coxsackievirus Infections		ISO	RGD:1552895	D	RGD:9068941	20210709	RGD		protein:increased expression:spleen, mononuclear cell (mouse)	PMID:16817758|REF_RGD_ID:127345109
12054076	CD1D	CD1d molecule	gene	DOID:9000469	Viral Myocarditis	ameliorates	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD		associated with Coxsackievirus Infections	PMID:12626572|REF_RGD_ID:127345102
12054076	CD1D	CD1d molecule	gene	DOID:9002433	Schistosomiasis Japonica	treatment	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD			PMID:33283278|REF_RGD_ID:127345110
12054076	CD1D	CD1d molecule	gene	DOID:9002834	Herpesviridae Infections	exacerbates	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD			PMID:19414797|REF_RGD_ID:127345094
12054076	CD1D	CD1d molecule	gene	DOID:9003470	Picornaviridae Infections		ISO	RGD:1552895	D	RGD:9068941	20210709	RGD			PMID:16809320|REF_RGD_ID:127345105
12054076	CD1D	CD1d molecule	gene	DOID:9003470	Picornaviridae Infections	treatment	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD			PMID:19949077|REF_RGD_ID:127345106
12054076	CD1D	CD1d molecule	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD			PMID:14572776|REF_RGD_ID:127345103
12054076	CD1D	CD1d molecule	gene	DOID:9005295	Viral Eye Infections	exacerbates	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD		associated with Herpesviridae Infections	PMID:30185591|REF_RGD_ID:127345098
12054076	CD1D	CD1d molecule	gene	DOID:9005757	Metapneumovirus infections		ISO	RGD:1552895	D	RGD:9068941	20210709	RGD		protein:decreased expression:alveolar macrophage, monocyte (mouse)	PMID:32463330|REF_RGD_ID:127345107
12054076	CD1D	CD1d molecule	gene	DOID:9006262	Cytomegalovirus Infections	exacerbates	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD			PMID:17379092|REF_RGD_ID:127345104
12054076	CD1D	CD1d molecule	gene	DOID:9006741	Acute Hepatitis	ameliorates	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD			PMID:11970881|REF_RGD_ID:127345111
12054076	CD1D	CD1d molecule	gene	DOID:9008090	Chlamydiaceae Infections		ISO	RGD:1552895	D	RGD:9068941	20210709	RGD			PMID:23999314|REF_RGD_ID:127345116
12054076	CD1D	CD1d molecule	gene	DOID:9008114	Helicobacter Infections		ISO	RGD:1353762	D	RGD:9068941	20210709	RGD		associated with dyspepsia;mRNA:splice variant:pyloric antrum (human)	PMID:26119195|REF_RGD_ID:11074500
12054076	CD1D	CD1d molecule	gene	DOID:9008163	Chronic Hepatitis B		ISO	RGD:1353762	D	RGD:9068941	20210709	RGD		associated with hepatocellular carcinoma;mRNA:increased expression:liver (human)	PMID:29643189|REF_RGD_ID:127345114
12054076	CD1D	CD1d molecule	gene	DOID:9008452	Candidemia	ameliorates	ISO	RGD:1552895	D	RGD:9068941	20210709	RGD		associated with endotoxemia	PMID:32154791|REF_RGD_ID:127345119
12054076	CD1D	CD1d molecule	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1353762	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:28492532
12054085	MIR365-1	microRNA mir-365-1	gene	DOID:0110848	xeroderma pigmentosum group F		ISO	RGD:2290203	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Xeroderma pigmentosum, group F	PMID:28492532
12054085	MIR365-1	microRNA mir-365-1	gene	DOID:2043	hepatitis B		ISO	RGD:2290203	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28545106
12054088	MIR106B	microRNA 106b	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1346496	D	RGD:9068941	20200609	RGD		miRNA:decreased expression:liver (rat)	PMID:29554950|REF_RGD_ID:15042854
12054088	MIR106B	microRNA mir-106b	gene	DOID:12849	autistic disorder		ISO	RGD:1346496	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20374639
12054088	MIR106B	microRNA mir-106b	gene	DOID:3347	osteosarcoma		ISO	RGD:1346496	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22510560
12054088	MIR106B	microRNA mir-106b	gene	DOID:4852	pleomorphic xanthoastrocytoma		ISO	RGD:1346496	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma	PMID:28299358
12054088	MIR106B	microRNA mir-106b	gene	DOID:6000	congestive heart failure		ISO	RGD:1346496	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
12054088	MIR106B	microRNA mir-106b	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346496	D	RGD:9068941	20200609	RGD		miRNA:decreased expression:liver (human)	PMID:28958640|REF_RGD_ID:15042874
12054088	MIR106B	microRNA mir-106b	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1346496	D	RGD:9068941	20200609	RGD		miRNA:increased expression:plasma (human)	PMID:25894380|REF_RGD_ID:15042875
12054088	MIR106B	microRNA mir-106b	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607597	D	RGD:9068941	20200609	RGD		miRNA:decreased expression:liver (human)	PMID:28958640|REF_RGD_ID:15042874
12054088	MIR106B	microRNA mir-106b	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1607597	D	RGD:9068941	20200609	RGD		miRNA:increased expression:plasma (human)	PMID:25894380|REF_RGD_ID:15042875
12054088	MIR106B	microRNA mir-106b	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2325388	D	RGD:9068941	20200609	RGD		miRNA:decreased expression:liver (human)	PMID:28958640|REF_RGD_ID:15042874
12054088	MIR106B	microRNA mir-106b	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:2325388	D	RGD:9068941	20200609	RGD		miRNA:increased expression:plasma (human)	PMID:25894380|REF_RGD_ID:15042875
12054088	MIR106B	microRNA mir-106b	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1346496	D	RGD:9068941	20200609	RGD		miRNA:increased expression:serum (human)	PMID:28611524|REF_RGD_ID:15042876
12054088	MIR106B	microRNA mir-106b	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:1607597	D	RGD:9068941	20200609	RGD		miRNA:increased expression:serum (human)	PMID:28611524|REF_RGD_ID:15042876
12054088	MIR106B	microRNA mir-106b	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:2325388	D	RGD:9068941	20200609	RGD		miRNA:increased expression:serum (human)	PMID:28611524|REF_RGD_ID:15042876
12054088	MIR106B	microRNA mir-106b	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1346496	D	RGD:9068941	20200609	RGD		miRNA:increased expression:liver (human)	PMID:31406464|REF_RGD_ID:15042877
12054088	MIR106B	microRNA mir-106b	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:1607597	D	RGD:9068941	20200609	RGD		miRNA:increased expression:liver (human)	PMID:31406464|REF_RGD_ID:15042877
12054088	MIR106B	microRNA mir-106b	gene	DOID:684	hepatocellular carcinoma	severity	ISO	RGD:2325388	D	RGD:9068941	20200609	RGD		miRNA:increased expression:liver (human)	PMID:31406464|REF_RGD_ID:15042877
12054088	MIR106B	microRNA mir-106b	gene	DOID:9008163	Chronic Hepatitis B	severity	ISO	RGD:1346496	D	RGD:9068941	20200609	RGD		associated with hepatocellular carcinoma;miRNA:increased expression:liver (human)	PMID:27298561|REF_RGD_ID:15042853
12054088	MIR106B	microRNA mir-106b	gene	DOID:9008163	Chronic Hepatitis B	severity	ISO	RGD:1607597	D	RGD:9068941	20200609	RGD		associated with hepatocellular carcinoma;miRNA:increased expression:liver (human)	PMID:27298561|REF_RGD_ID:15042853
12054088	MIR106B	microRNA mir-106b	gene	DOID:9008163	Chronic Hepatitis B	severity	ISO	RGD:2325388	D	RGD:9068941	20200609	RGD		associated with hepatocellular carcinoma;miRNA:increased expression:liver (human)	PMID:27298561|REF_RGD_ID:15042853
12054088	MIR106B	microRNA mir-106b	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1346496	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22510560
12054088	MIR106B	microRNA mir-106b	gene	DOID:9256	colorectal cancer		ISO	RGD:1346496	D	RGD:9068941	20220805	RGD		miRNA:increased expression:colorectum (human)	PMID:23322774|REF_RGD_ID:153002793
12054088	Mir106b	microRNA 106b	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1607597	D	RGD:9068941	20200609	RGD		miRNA:decreased expression:liver (rat)	PMID:29554950|REF_RGD_ID:15042854
12054088	Mir106b	microRNA 106b	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:2325388	D	RGD:9068941	20200609	RGD		DNA:hypermethylation:promoter	PMID:29554950|REF_RGD_ID:15042854
12054157	ARHGAP9	Rho GTPase activating protein 9	gene	DOID:0070454	hereditary spastic paraplegia 70		ISO	RGD:1313314	D	RGD:8554872	20230510	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia 70, autosomal recessive	PMID:24482476|PMID:28492532
12054157	ARHGAP9	Rho GTPase activating protein 9	gene	DOID:0110173	Charcot-Marie-Tooth disease axonal type 2U		ISO	RGD:1313314	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2U | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease axonal type 2U	PMID:17576681|PMID:24482476|PMID:28492532|PMID:35303589|PMID:9536098
12054157	ARHGAP9	Rho GTPase activating protein 9	gene	DOID:0110251	cataract 15 multiple types		ISO	RGD:1313314	D	RGD:8554872	20240716	ClinVar		ClinVar Annotator: match by term: Cataract 15 multiple types	PMID:28492532
12054157	ARHGAP9	Rho GTPase activating protein 9	gene	DOID:11840	coronary artery vasospasm		ISO	RGD:1313314	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Coronary artery spasm 3, susceptibility to	PMID:19911011
12054157	ARHGAP9	Rho GTPase activating protein 9	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1313314	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:25741868|PMID:28832565
12054157	ARHGAP9	Rho GTPase activating protein 9	gene	DOID:607	paraplegia		ISO	RGD:1313314	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:28492532
12054157	ARHGAP9	Rho GTPase activating protein 9	gene	DOID:6846	familial melanoma		ISO	RGD:1313314	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Familial melanoma	PMID:28492532
12054157	ARHGAP9	Rho GTPase activating protein 9	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1313314	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12054157	ARHGAP9	Rho GTPase activating protein 9	gene	DOID:9002394	INTERSTITIAL LUNG AND LIVER DISEASE		ISO	RGD:1313314	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Interstitial lung and liver disease | ClinVar Annotator: match by term: PULMONARY ALVEOLAR PROTEINOSIS, REUNION ISLAND	PMID:17576681|PMID:24482476|PMID:28492532|PMID:35303589|PMID:9536098
12054180	SHARPIN	SHANK associated RH domain interactor	gene	DOID:0080786	Brown-Vialetto-Van Laere syndrome 2		ISO	RGD:1603608	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Brown-Vialetto-van Laere syndrome 2	PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526
12054180	SHARPIN	SHANK associated RH domain interactor	gene	DOID:0090017	epidermolysis bullosa simplex with muscular dystrophy		ISO	RGD:1603608	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Epidermolysis bullosa simplex 5B, with muscular dystrophy	PMID:20301336|PMID:20447487|PMID:21109228|PMID:23289980|PMID:24253200|PMID:28492532|PMID:28824526
12054180	SHARPIN	SHANK associated RH domain interactor	gene	DOID:2723	dermatitis		ISO	RGD:1603608	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19650867
12054180	SHARPIN	SHANK associated RH domain interactor	gene	DOID:3310	atopic dermatitis		ISO	RGD:1549996	D	RGD:9068941	20220825	MouseDO		OMIM:603165	
12054180	SHARPIN	SHANK associated RH domain interactor	gene	DOID:4621	holoprosencephaly		ISO	RGD:1603608	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Holoprosencephaly sequence	PMID:28492532
12054180	SHARPIN	SHANK associated RH domain interactor	gene	DOID:9001371	Eosinophilia		ISO	RGD:1603608	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19650867
12054180	SHARPIN	SHANK associated RH domain interactor	gene	DOID:9003884	Recombinant Chromosome 8 Syndrome		ISO	RGD:1603608	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Recombinant 8 syndrome	PMID:31690835
12054180	SHARPIN	SHANK associated RH domain interactor	gene	DOID:9007676	AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION		ISO	RGD:1603608	D	RGD:7240710	20240515	OMIM			
12054180	SHARPIN	SHANK associated RH domain interactor	gene	DOID:9007676	AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION		ISO	RGD:1603608	D	RGD:8554872	20240514	ClinVar		ClinVar Annotator: match by term: Autoinflammation with episodic fever and immune dysregulation	PMID:38609546
12054197	LNX1	ligand of numb-protein X 1	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:1317771	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Lip and oral cavity carcinoma	PMID:26614431
12054224	HYAL4	hyaluronidase 4	gene	DOID:4852	pleomorphic xanthoastrocytoma		ISO	RGD:1347409	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma	PMID:28299358
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:0050700	cardiomyopathy	treatment	ISO	RGD:619555	D	RGD:9068941	20200609	RGD			PMID:17363697|REF_RGD_ID:11040927
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:0050827	rheumatic heart disease		ISO	RGD:619554	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:blood, mononuclear cell	PMID:16741676|REF_RGD_ID:6893529
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:0060180	colitis		ISO	RGD:619555	D	RGD:9068941	20200609	RGD			PMID:19117124|REF_RGD_ID:6893503
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:0060224	atrial fibrillation	disease_progression	ISO	RGD:619554	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:blood, leukocyte	PMID:21195211|REF_RGD_ID:6893544
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:0070004	myeloid neoplasm		ISO	RGD:619554	D	RGD:9068941	20200609	RGD		protein:increased expression:platelet, plasma membrane	PMID:12479587|REF_RGD_ID:11040908
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:0070508	metabolic dysfunction and alcohol associated liver disease		ISO	RGD:619555	D	RGD:9068941	20200609	RGD			PMID:24280415|REF_RGD_ID:11041117
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:619555	D	RGD:9068941	20200609	RGD			PMID:24280415|REF_RGD_ID:11041117
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:619555	D	RGD:9068941	20200609	RGD		mRNA:increased expression:liver	PMID:21216282|REF_RGD_ID:6893543
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:0111046	platelet-type bleeding disorder 10		ISO	RGD:619554	D	RGD:7240710	20250108	OMIM			
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:0111046	platelet-type bleeding disorder 10		ISO	RGD:619554	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Platelet-type bleeding disorder 10	PMID:10890433|PMID:10946357|PMID:11019968|PMID:11352982|PMID:11499670|PMID:11718687|PMID:11950861|PMID:12031598|PMID:15282206|PMID:15671915|PMID:16493488|PMID:18305138|PMID:19403559|PMID:20722468|PMID:22993001|PMID:23649248|PMID:23856131|PMID:23966019|PMID:24033266|PMID:24917573|PMID:24960640|PMID:25330908|PMID:25741868|PMID:25798958|PMID:25995486|PMID:26528880|PMID:28137300|PMID:28492532|PMID:28960434|PMID:31980526|PMID:33116287|PMID:33942430|PMID:7533783|PMID:7686693|PMID:8696942
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:619554	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:16911630|PMID:16952981|PMID:25741868|PMID:32347024|PMID:32796572
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:10223	dermatomyositis		ISO	RGD:619554	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skeletal muscle	PMID:17572512|REF_RGD_ID:6893508
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:10325	silicosis	treatment	ISO	RGD:2301	D	RGD:9068941	20200609	RGD			PMID:24053919|REF_RGD_ID:11041147
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:10603	glucose intolerance		ISO	RGD:619554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14640889
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:10608	celiac disease		ISO	RGD:619554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30097691
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:10652	Alzheimer's disease		ISO	RGD:619554	D	RGD:9068941	20200609	RGD			PMID:16563568|REF_RGD_ID:6893531
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:10763	hypertension		ISO	RGD:2301	D	RGD:9068941	20200609	RGD			PMID:18587397|REF_RGD_ID:2300254
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:10763	hypertension		ISO	RGD:619554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18587397
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:10772	thrombotic thrombocytopenic purpura		ISO	RGD:619554	D	RGD:9068941	20200609	RGD			PMID:7529543|REF_RGD_ID:11041104
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:10923	sickle cell anemia		ISO	RGD:619554	D	RGD:9068941	20200609	RGD		protein:increased expression:erythrocyte	PMID:18322255|REF_RGD_ID:6893506
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:10923	sickle cell anemia	treatment	ISO	RGD:619555	D	RGD:9068941	20200609	RGD			PMID:20015873|REF_RGD_ID:11041114
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:11382	corneal neovascularization		ISO	RGD:619555	D	RGD:9068941	20200609	RGD			PMID:17003426|REF_RGD_ID:6893528
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:2301	D	RGD:9068941	20200609	RGD		protein:decreased expression:cardiac muscle cell	PMID:25702158|REF_RGD_ID:11041149
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:2301	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart	PMID:19189074|REF_RGD_ID:2307222
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:12132	granulomatosis with polyangiitis		ISO	RGD:619554	D	RGD:9068941	20200609	RGD			PMID:21412229|REF_RGD_ID:6893495
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:12365	malaria		ISO	RGD:619554	D	RGD:7240710	20250108	OMIM			
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:12365	malaria		ISO	RGD:619554	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Malaria, cerebral, susceptibility to | ClinVar Annotator: match by term: Malaria, susceptibility to	PMID:10890433|PMID:18305138|PMID:19403559|PMID:25741868|PMID:28960434|PMID:33116287
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:12554	hemolytic-uremic syndrome		ISO	RGD:619554	D	RGD:9068941	20200609	RGD			PMID:16197457|REF_RGD_ID:6893534
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:619554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10981864
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:14069	cerebral malaria		ISO	RGD:619555	D	RGD:9068941	20200609	RGD			PMID:17367535|REF_RGD_ID:6893527
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:1826	epilepsy		ISO	RGD:619554	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25074461
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:1936	atherosclerosis		ISO	RGD:619555	D	RGD:9068941	20200609	RGD			PMID:19264766|PMID:20037584|REF_RGD_ID:6893502|REF_RGD_ID:6893559
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:2301	D	RGD:9068941	20200609	RGD			PMID:26003171|REF_RGD_ID:11041151
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:2218	blood platelet disease		ISO	RGD:619554	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Platelet disorder	PMID:10946357|PMID:11019968|PMID:11718687|PMID:11950861|PMID:15282206|PMID:24033266|PMID:24917573|PMID:24960640|PMID:25741868|PMID:25798958|PMID:7533783|PMID:7686693
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:2224	essential thrombocythemia		ISO	RGD:619554	D	RGD:9068941	20200609	RGD		protein:increased expression:platelet, cell surface	PMID:8555064|REF_RGD_ID:11041099
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:2316	brain ischemia		ISO	RGD:619555	D	RGD:9068941	20200609	RGD			PMID:20360550|REF_RGD_ID:6893498
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:2349	arteriosclerosis	severity	ISO	RGD:619554	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:18723424|REF_RGD_ID:2307207
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:2378	relapsing-remitting multiple sclerosis		ISO	RGD:619554	D	RGD:9068941	20200609	RGD			PMID:20855355|REF_RGD_ID:6893496
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:2527	nephrosis		ISO	RGD:2301	D	RGD:9068941	20200609	RGD			PMID:19147991|REF_RGD_ID:2307223
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:289	endometriosis		ISO	RGD:619554	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:macrophage	PMID:19606481|REF_RGD_ID:6893501
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:2957	pulmonary tuberculosis	susceptibility	ISO	RGD:619554	D	RGD:9068941	20210226	RGD		DNA:SNPs: :rs1194182, rs10499859(human)	PMID:28693442|REF_RGD_ID:41412192
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:3042	allergic contact dermatitis		ISO	RGD:619554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17374397
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:3393	coronary artery disease		ISO	RGD:619554	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Premature coronary artery atherosclerosis	PMID:25741868
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:3429	inclusion body myositis		ISO	RGD:619554	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skeletal muscle	PMID:17572512|REF_RGD_ID:6893508
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:3525	middle cerebral artery infarction	treatment	ISO	RGD:619555	D	RGD:9068941	20200609	RGD			PMID:25216018|REF_RGD_ID:11041113
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:3526	cerebral infarction		ISO	RGD:619555	D	RGD:9068941	20200609	RGD		associated with Hyperlipidemias	PMID:22718544|REF_RGD_ID:6893487
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:2301	D	RGD:9068941	20200609	RGD		associated with Silicosis	PMID:19439069|REF_RGD_ID:2307220
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:3770	pulmonary fibrosis	severity	ISO	RGD:619555	D	RGD:9068941	20200609	RGD		associated with Silicosis	PMID:20056742|REF_RGD_ID:6893557
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:4448	macular degeneration		ISO	RGD:2301	D	RGD:9068941	20200609	RGD			PMID:18288886|REF_RGD_ID:2307226
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:4448	macular degeneration		ISO	RGD:619555	D	RGD:9068941	20200609	RGD			PMID:18288886|REF_RGD_ID:2307226
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:4852	pleomorphic xanthoastrocytoma		ISO	RGD:619554	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma	PMID:28299358
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:5082	liver cirrhosis		ISO	RGD:619554	D	RGD:9068941	20200609	RGD		associated with Hypertension, Portal	PMID:22648712|REF_RGD_ID:6893541
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:5844	myocardial infarction	severity	ISO	RGD:2301	D	RGD:9068941	20200609	RGD			PMID:22128087|REF_RGD_ID:6893560
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:619554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15690042
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:8398	osteoarthritis	susceptibility	ISO	RGD:619554	D	RGD:9068941	20200609	RGD			PMID:15334463|REF_RGD_ID:1625347
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:8552	chronic myeloid leukemia		ISO	RGD:619554	D	RGD:9068941	20200609	RGD		protein:increased expression:platelet, cell surface	PMID:8555064|REF_RGD_ID:11041099
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:8997	polycythemia vera		ISO	RGD:619554	D	RGD:9068941	20200609	RGD		protein:increased expression:platelet, cell surface	PMID:8555064|REF_RGD_ID:11041099
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9000064	Cardiac Arrhythmias	severity	ISO	RGD:2301	D	RGD:9068941	20200609	RGD			PMID:22128087|REF_RGD_ID:6893560
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9000146	Plaque, Atherosclerotic	ameliorates	ISO	RGD:619555	D	RGD:9068941	20230831	RGD			PMID:28062499|REF_RGD_ID:329955458
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9000528	Coronary Disease		ISO	RGD:619554	D	RGD:7240710	20250108	OMIM			
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9000528	Coronary Disease		ISO	RGD:619554	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7	PMID:25741868|PMID:28960434|PMID:33116287
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9000656	Penetrating Wounds		ISO	RGD:619555	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2;mRNA:decreased expression:macrophage	PMID:21803601|REF_RGD_ID:6893492
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9000808	Hypercholesterolemia		ISO	RGD:619554	D	RGD:9068941	20200609	RGD			PMID:10946357|REF_RGD_ID:11040931
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9001415	Mycobacterium Infections		ISO	RGD:619555	D	RGD:9068941	20200609	RGD			PMID:20950462|REF_RGD_ID:6893545
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:619554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:2301	D	RGD:9068941	20200609	RGD		protein:increased expression:renal proximal tubule, endothelial cell	PMID:15737001|REF_RGD_ID:2307215
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9002331	Knee Osteoarthritis		ISO	RGD:2301	D	RGD:9068941	20200609	RGD			PMID:19342682|REF_RGD_ID:6893565
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9002331	Knee Osteoarthritis	disease_progression	ISO	RGD:619554	D	RGD:9068941	20200609	RGD			PMID:21765106|REF_RGD_ID:6893494
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9002554	Tachycardia		ISO	RGD:2301	D	RGD:9068941	20200609	RGD			PMID:26579575|REF_RGD_ID:11041119
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:619555	D	RGD:9068941	20200609	RGD			PMID:19064796|REF_RGD_ID:6893504
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9003936	Cardiomegaly	treatment	ISO	RGD:619555	D	RGD:9068941	20200609	RGD		associated with Obesity	PMID:26036798|REF_RGD_ID:11040928
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:619554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16526316
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9004484	Sepsis		ISO	RGD:619555	D	RGD:9068941	20200609	RGD			PMID:22327076|REF_RGD_ID:6893490
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:619555	D	RGD:9068941	20200609	RGD		associated with Malaria	PMID:18483551|REF_RGD_ID:6893505
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9004657	Weight Gain		ISO	RGD:619554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9005176	Retroperitoneal Fibrosis		ISO	RGD:619554	D	RGD:9068941	20200609	RGD			PMID:16014033|REF_RGD_ID:6893538
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9005372	Inflammation		ISO	RGD:619555	D	RGD:9068941	20200609	RGD		associated with Fatty Liver	PMID:22470565|REF_RGD_ID:6893488
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:2301	D	RGD:9068941	20200609	RGD		mRNA:increased expression:multiple organs	PMID:16838191|REF_RGD_ID:2307214
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9005643	Experimental Diabetes Mellitus	treatment	ISO	RGD:2301	D	RGD:9068941	20200609	RGD			PMID:23691525|REF_RGD_ID:11041145
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9006013	Hematoma		ISO	RGD:619554	D	RGD:9068941	20200609	RGD		associated with Cerebral Hemorrhage	PMID:24808360|REF_RGD_ID:11040930
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9006013	Hematoma	treatment	ISO	RGD:619555	D	RGD:9068941	20200609	RGD		associated with Cerebral Hemorrhage	PMID:24808360|REF_RGD_ID:11040930
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:2301	D	RGD:9068941	20200609	RGD			PMID:9916795|REF_RGD_ID:619666
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9006646	Metabolic Syndrome		ISO	RGD:619554	D	RGD:9068941	20200609	RGD		DNA:SNPs: :multiple (human)	PMID:18305138|REF_RGD_ID:2307208
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:619554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9007692	Insulin Resistance		ISO	RGD:2301	D	RGD:9068941	20200609	RGD			PMID:11175782|PMID:25477422|REF_RGD_ID:11041132|REF_RGD_ID:68930
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9007692	Insulin Resistance		ISO	RGD:619554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14640889
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9007692	Insulin Resistance		ISO	RGD:619555	D	RGD:9068941	20200609	RGD			PMID:12923231|REF_RGD_ID:11040926
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9007692	Insulin Resistance		ISO	RGD:619555	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2	PMID:15231693|REF_RGD_ID:2307217
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9008885	Staphylococcal Infections		ISO	RGD:619554	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15690042
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9182	pemphigus		ISO	RGD:619554	D	RGD:9068941	20200609	RGD			PMID:21255096|REF_RGD_ID:5490304
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9351	diabetes mellitus		ISO	RGD:619555	D	RGD:9068941	20200609	RGD		protein:increased expression:macrophage	PMID:17551591|REF_RGD_ID:2307209
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:619554	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:16911630|PMID:16952981|PMID:25741868|PMID:32347024|PMID:32796572
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9352	type 2 diabetes mellitus	severity	ISO	RGD:619554	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter, rs1527479 (human)	PMID:16911630|REF_RGD_ID:2307213
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9452	steatotic liver disease		ISO	RGD:619555	D	RGD:9068941	20200609	RGD			PMID:19788606|REF_RGD_ID:6893500
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:619555	D	RGD:9068941	20200609	RGD		protein:increased expression:heart	PMID:7544802|REF_RGD_ID:2307219
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9970	obesity		ISO	RGD:2301	D	RGD:9068941	20200609	RGD			PMID:25477422|REF_RGD_ID:11041132
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9970	obesity		ISO	RGD:2301	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:liver, gastrocnemius	PMID:20435456|REF_RGD_ID:6893497
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9970	obesity		ISO	RGD:2301	D	RGD:9068941	20200609	RGD		protein:increased expression:skeletal muscle, T-tubule	PMID:23743348|REF_RGD_ID:11041118
12054230	CD36	CD36 molecule (CD36 blood group)	gene	DOID:9970	obesity		ISO	RGD:619555	D	RGD:9068941	20200609	RGD			PMID:22615812|REF_RGD_ID:6893542
12054275	POLR3F	RNA polymerase III subunit F	gene	DOID:0070219	familial hyperinsulinemic hypoglycemia 1		ISO	RGD:1315038	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hyperinsulinemic hypoglycemia, familial, 1	PMID:38605124
12054275	POLR3F	RNA polymerase III subunit F	gene	DOID:0111401	congenital dyserythropoietic anemia type II		ISO	RGD:1315038	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Congenital dyserythropoietic anemia, type II	PMID:19561605|PMID:25044164|PMID:28492532
12054275	POLR3F	RNA polymerase III subunit F	gene	DOID:9003532	IMMUNODEFICIENCY 101 (VARICELLA ZOSTER VIRUS-SPECIFIC)		ISO	RGD:1315038	D	RGD:7240710	20220629	OMIM			
12054275	POLR3F	RNA polymerase III subunit F	gene	DOID:9003532	IMMUNODEFICIENCY 101 (VARICELLA ZOSTER VIRUS-SPECIFIC)		ISO	RGD:1315038	D	RGD:8554872	20220628	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 101 (varicella zoster virus-specific)	
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:0050661	vitelliform macular dystrophy	susceptibility	ISO	RGD:732659	D	RGD:9068941	20200609	RGD		DNA:snp:promoter:g.-625G>A (rs11200638) (human)	PMID:22893068|REF_RGD_ID:7394745
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:0060863	patterned macular dystrophy	susceptibility	ISO	RGD:732659	D	RGD:9068941	20200609	RGD		DNA:snp:promoter:g.-625G>A (rs11200638) (human)	PMID:22893068|REF_RGD_ID:7394745
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:0080600	COVID-19		ISO	RGD:732659	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:0110019	age related macular degeneration 7		ISO	RGD:732659	D	RGD:7240710	20180130	OMIM			
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:0110019	age related macular degeneration 7		ISO	RGD:732659	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Age related macular degeneration 7 | ClinVar Annotator: match by term: Susceptibility to neovascular type of age-related macular degeneration	PMID:16199547|PMID:17053108|PMID:17053109|PMID:17568988|PMID:18511946|PMID:19259132|PMID:19387015|PMID:25741868|PMID:28492532|PMID:29895533|PMID:30068478|PMID:31719132|PMID:34510819|PMID:34626176
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:0110019	age related macular degeneration 7	severity	ISO	RGD:732659	D	RGD:9068941	20200609	RGD		DNA:snps:promoter, exons:g.-497C>T, g.+108G>T/C, g.5230C>T (rs2672598, rs2293870, rs1049331) (human)	PMID:19796758|REF_RGD_ID:7394719
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:0110019	age related macular degeneration 7	susceptibility	ISO	RGD:732659	D	RGD:9068941	20200609	RGD		DNA:polymorphisms:multiple (human)	PMID:18207215|REF_RGD_ID:7394722
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:0110019	age related macular degeneration 7	susceptibility	ISO	RGD:732659	D	RGD:9068941	20200609	RGD		DNA:snp:intron:g.IVS1+9824G>A (rs932275) (human)	PMID:19933195|REF_RGD_ID:7394713
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:0110019	age related macular degeneration 7	susceptibility	ISO	RGD:732659	D	RGD:9068941	20200609	RGD		DNA:snp:promoter:g.-497C>T (rs2672598) (human)	PMID:18436811|REF_RGD_ID:7394721
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:0111036	CADASIL2		ISO	RGD:732659	D	RGD:7240710	20190315	OMIM			
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:0111036	CADASIL2		ISO	RGD:732659	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | ClinVar Annotator: match by term: HTRA1-related autosomal dominant cerebral small vessel disease	PMID:19387015|PMID:25712943|PMID:25741868|PMID:26063658|PMID:26467025|PMID:27164673|PMID:28402226|PMID:28492532|PMID:29561953|PMID:29895533|PMID:30447605|PMID:30981321|PMID:31316458|PMID:32042911|PMID:32101834|PMID:32581362|PMID:32719647|PMID:34220097|PMID:35307828|PMID:35606766
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:10534	stomach cancer		ISO	RGD:732659	D	RGD:9068941	20220609	RGD		protein:decreased expression:stomach (human)	PMID:25761858|REF_RGD_ID:11058317
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:10534	stomach cancer	treatment	ISO	RGD:732659	D	RGD:9068941	20220609	RGD			PMID:21447133|REF_RGD_ID:152977763
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:10763	hypertension		ISO	RGD:732659	D	RGD:9068941	20200609	RGD		associated with Macular Degeneration; DNA:snp:cds:g.102C>T (rs1049331) (human)	PMID:21682878|REF_RGD_ID:7394697
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:10871	age related macular degeneration	susceptibility	ISO	RGD:732659	D	RGD:9068941	20200609	RGD		DNA:snp:promoter:g.-1894G>A (rs3793917) (human)	PMID:22618592|REF_RGD_ID:7394695
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:10873	Kuhnt-Junius degeneration	susceptibility	ISO	RGD:732659	D	RGD:9068941	20200609	RGD		DNA:silent mutations:exon:g.+102C>T, g.+108G>T/C (rs1049331, rs2293870) (human)	PMID:18164066|REF_RGD_ID:7394724
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:10873	Kuhnt-Junius degeneration	susceptibility	ISO	RGD:732659	D	RGD:9068941	20200609	RGD		DNA:snp:promoter:g.-625G>A (rs11200638) (human)	PMID:22800422|REF_RGD_ID:7387322
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:1107	esophageal carcinoma	disease_progression	ISO	RGD:732659	D	RGD:9068941	20220609	RGD		mRNA,protein:decreased expression:esophagus (human)	PMID:22935172|REF_RGD_ID:152985525
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:13945	CADASIL		ISO	RGD:732659	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy	PMID:25741868|PMID:28492532
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:1790	malignant mesothelioma	disease_progression	ISO	RGD:732659	D	RGD:9068941	20220527	RGD		protein:increased expression:mesothelium (human)	PMID:18681782|REF_RGD_ID:152975625
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:1826	epilepsy		ISO	RGD:732659	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Seizures	PMID:19387015|PMID:25741868|PMID:26063658|PMID:28492532|PMID:29895533|PMID:32101834|PMID:32581362
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:2152	ovary epithelial cancer	treatment	ISO	RGD:732659	D	RGD:9068941	20220603	RGD			PMID:16767218|REF_RGD_ID:152977756
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:219	colon cancer	disease_progression	ISO	RGD:732659	D	RGD:9068941	20220609	RGD		DNA:SNP:cds: (rs1049331) (human)	PMID:32218415|REF_RGD_ID:152985527
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:2340	craniosynostosis		ISO	RGD:732659	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: FGFR2-related craniosynostosis	PMID:17873121|PMID:28492532|PMID:31754721
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:3748	esophagus squamous cell carcinoma	ameliorates	ISO	RGD:732659	D	RGD:9068941	20220603	RGD		human gene and cells in mouse model	PMID:23079781|REF_RGD_ID:152975633
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:3748	esophagus squamous cell carcinoma	exacerbates	ISO	RGD:732659	D	RGD:9068941	20220603	RGD		mRNA,protein:decreased expression:epithelium of esophagus (human)	PMID:23079781|REF_RGD_ID:152975633
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:3908	lung non-small cell carcinoma	exacerbates	ISO	RGD:732659	D	RGD:9068941	20220527	RGD		protein:decreased expression:lung (human)	PMID:32878625|REF_RGD_ID:152975629
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:3910	lung adenocarcinoma	disease_progression	ISO	RGD:732659	D	RGD:9068941	20220526	RGD		human cells in mouse model	PMID:24356998|REF_RGD_ID:152975621
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:4448	macular degeneration		ISO	RGD:732659	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Macular degeneration	PMID:18164066|PMID:18316707|PMID:20437615|PMID:25741868|PMID:26467025|PMID:27338780|PMID:28492532|PMID:28782182|PMID:29546604|PMID:32017060|PMID:32719647|PMID:34220097|PMID:34626176|PMID:35946346|PMID:36253578
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:630	genetic disease		ISO	RGD:732659	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:684	hepatocellular carcinoma	disease_progression	ISO	RGD:732659	D	RGD:9068941	20220609	RGD		mRNA:decreased expression:liver (human)	PMID:26403966|REF_RGD_ID:152985529
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:684	hepatocellular carcinoma	exacerbates	ISO	RGD:732659	D	RGD:9068941	20220609	RGD		protein:decreased expression:liver (human)	PMID:20943460|REF_RGD_ID:152985524
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:8577	ulcerative colitis		ISO	RGD:732659	D	RGD:9068941	20220609	RGD		protein:decreased expression:colonic epithelium,colonic mucosa (human)	PMID:28586045|REF_RGD_ID:152985530
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:8725	vascular dementia		ISO	RGD:732659	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Vascular dementia	PMID:19387015|PMID:24500651|PMID:25741868|PMID:27164673|PMID:29895533|PMID:31316458|PMID:32042911|PMID:32165824|PMID:32719647|PMID:33268848|PMID:35307828|PMID:35606766
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:9001044	Choroidal Neovascularization		ISO	RGD:732659	D	RGD:9068941	20200609	RGD		DNA:snp:promoter:g.-625G>A (rs11200638) (human)	PMID:18682806|REF_RGD_ID:7394694
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:9001044	Choroidal Neovascularization		ISO	RGD:732659	D	RGD:9068941	20200609	RGD		human gene in mouse model	PMID:21844367|REF_RGD_ID:7394749
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:9001044	Choroidal Neovascularization	no_association	ISO	RGD:732659	D	RGD:9068941	20200609	RGD		associated with Myopia; DNA:snp:promoter:g.-625G>A (rs11200638) (human)	PMID:19680273|REF_RGD_ID:7394720
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:9001147	Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy		ISO	RGD:732659	D	RGD:7240710	20180130	OMIM			
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:9001147	Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy		ISO	RGD:732659	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: CARASIL | ClinVar Annotator: match by term: CARASIL syndrome | ClinVar Annotator: match by term: Cerebrovascular disease with thin skin, alopecia, and disc disease | ClinVar Annotator: match by term: HTRA1-related cerebral small vessel disease	PMID:11889251|PMID:18316707|PMID:19387015|PMID:20437615|PMID:21115960|PMID:21482952|PMID:22900900|PMID:23963851|PMID:24500651|PMID:24535794|PMID:25506911|PMID:25741868|PMID:25770224|PMID:25772074|PMID:25957642|PMID:26063658|PMID:26467025|PMID:27164673|PMID:27353043|PMID:28492532|PMID:28782182|PMID:29561953|PMID:29895533|PMID:30859180|PMID:31316458|PMID:32042911|PMID:32101834|PMID:32165824|PMID:32581362|PMID:32719647|PMID:33268848|PMID:34220097|PMID:35307828|PMID:35606766|PMID:36047879|PMID:36253578|PMID:36261288|PMID:36380532|PMID:37348440
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:9001427	Geographic Atrophy		ISO	RGD:732659	D	RGD:9068941	20200609	RGD		DNA:snp:promoter:g.-625G>A (rs11200638) (human)	PMID:17426452|REF_RGD_ID:7394693
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:9002775	Cognitive Dysfunction		ISO	RGD:732659	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cognitive impairment	PMID:19387015|PMID:25741868|PMID:26063658|PMID:28492532|PMID:29895533|PMID:32101834|PMID:32581362
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:9003149	2-Methylbutyryl-CoA Dehydrogenase Deficiency		ISO	RGD:732659	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Deficiency of 2-methylbutyryl-CoA dehydrogenase	PMID:20547083|PMID:26284228|PMID:28492532
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:732659	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27935865
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:9008537	Polypoidal Choroidal Vasculopathy		ISO	RGD:732659	D	RGD:9068941	20200609	RGD		human gene in mouse model	PMID:21844367|REF_RGD_ID:7394749
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:9008537	Polypoidal Choroidal Vasculopathy	susceptibility	ISO	RGD:732659	D	RGD:9068941	20200609	RGD		DNA:snp:promoter:g.-625G>A (rs11200638) (human)	PMID:23326481|REF_RGD_ID:7394751
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:9256	colorectal cancer		ISO	RGD:732659	D	RGD:9068941	20220609	RGD		protein:decreased expression:colonic epithelium,colonic mucosa (human)	PMID:28586045|REF_RGD_ID:152985530
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:9256	colorectal cancer	exacerbates	ISO	RGD:732659	D	RGD:9068941	20220609	RGD		mRNA, protein:increased expression,decreased expression:colorectal mucosa (human)	PMID:32486357|REF_RGD_ID:152977762
12054297	HTRA1	HtrA serine peptidase 1	gene	DOID:9351	diabetes mellitus		ISO	RGD:732659	D	RGD:9068941	20220527	RGD		associated with lung adenocarcinoma and lung squamous cell carcinoma; protein:decreased expression:lung (human)	PMID:27411924|REF_RGD_ID:152975631
12054309	HFM1	helicase for meiosis 1	gene	DOID:0070176	spermatogenic failure 4		ISO	RGD:1606438	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Spermatogenic failure 4	
12054309	HFM1	helicase for meiosis 1	gene	DOID:0080866	primary ovarian insufficiency 9		ISO	RGD:1606438	D	RGD:7240710	20180130	OMIM			
12054309	HFM1	helicase for meiosis 1	gene	DOID:0080866	primary ovarian insufficiency 9		ISO	RGD:1606438	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: HFM1-related condition | ClinVar Annotator: match by term: Premature ovarian failure 9	PMID:24597873|PMID:25741868
12054309	HFM1	helicase for meiosis 1	gene	DOID:0080873	primary ovarian insufficiency 16		ISO	RGD:1606438	D	RGD:8554872	20220927	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	
12054309	HFM1	helicase for meiosis 1	gene	DOID:1339	Diamond-Blackfan anemia		ISO	RGD:1606438	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Diamond-Blackfan anemia	PMID:28492532
12054309	HFM1	helicase for meiosis 1	gene	DOID:14227	azoospermia		ISO	RGD:1606438	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Azoospermia	
12054309	HFM1	helicase for meiosis 1	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1606438	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Genetic non-acquired premature ovarian failure	
12054364	CALCOCO2	calcium binding and coiled-coil domain 2	gene	DOID:0111565	trichodontoosseous syndrome		ISO	RGD:1601886	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Tricho-dento-osseous syndrome	PMID:25741868
12054364	CALCOCO2	calcium binding and coiled-coil domain 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1601886	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Breast-ovarian cancer, familial, susceptibility to, 1	PMID:38922859
12054364	CALCOCO2	calcium binding and coiled-coil domain 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:1601886	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25944804
12054391	COG5	component of oligomeric golgi complex 5	gene	DOID:0060224	atrial fibrillation		ISO	RGD:1319696	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
12054391	COG5	component of oligomeric golgi complex 5	gene	DOID:0070261	congenital disorder of glycosylation type IIi		ISO	RGD:1319696	D	RGD:7240710	20180130	OMIM			
12054391	COG5	component of oligomeric golgi complex 5	gene	DOID:0070261	congenital disorder of glycosylation type IIi		ISO	RGD:1319696	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: COG5-CDG | ClinVar Annotator: match by term: COG5-congenital disorder of glycosylation	PMID:16199547|PMID:17576681|PMID:19690088|PMID:23228021|PMID:23430875|PMID:24033266|PMID:25331899|PMID:25640679|PMID:25741868|PMID:28492532|PMID:28567303|PMID:28708303|PMID:29878199|PMID:31175295|PMID:31572517|PMID:32174980|PMID:33187827|PMID:33277529|PMID:9536098
12054391	COG5	component of oligomeric golgi complex 5	gene	DOID:4852	pleomorphic xanthoastrocytoma		ISO	RGD:1319696	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma	PMID:28299358
12054391	COG5	component of oligomeric golgi complex 5	gene	DOID:5212	congenital disorder of glycosylation		ISO	RGD:1319696	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital disorder of glycosylation	PMID:28492532
12054391	COG5	component of oligomeric golgi complex 5	gene	DOID:630	genetic disease		ISO	RGD:1319696	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17576681|PMID:25741868|PMID:28492532|PMID:9536098
12054391	COG5	component of oligomeric golgi complex 5	gene	DOID:9006549	Enterovirus Infections		ISO	RGD:1319696	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28446605
12054420	LTF	lactotransferrin	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:1313477	D	RGD:9068941	20200609	RGD			PMID:9791051|REF_RGD_ID:7243943
12054420	LTF	lactotransferrin	gene	DOID:10763	hypertension		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24587916
12054420	LTF	lactotransferrin	gene	DOID:11476	osteoporosis		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16648989|PMID:16936800
12054420	LTF	lactotransferrin	gene	DOID:13250	diarrhea		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16640825
12054420	LTF	lactotransferrin	gene	DOID:13689	prostate calculus		ISO	RGD:1313477	D	RGD:9068941	20200609	RGD			PMID:19202053|REF_RGD_ID:7243107
12054420	LTF	lactotransferrin	gene	DOID:14262	oral candidiasis		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16640825
12054420	LTF	lactotransferrin	gene	DOID:14566	disease of cellular proliferation		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16640825
12054420	LTF	lactotransferrin	gene	DOID:1508	candidiasis		ISO	RGD:1313477	D	RGD:9068941	20200609	RGD			PMID:17922408|REF_RGD_ID:7243948
12054420	LTF	lactotransferrin	gene	DOID:2272	vulvovaginal candidiasis		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16640825
12054420	LTF	lactotransferrin	gene	DOID:289	endometriosis		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21063030
12054420	LTF	lactotransferrin	gene	DOID:381	arthropathy		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16640825
12054420	LTF	lactotransferrin	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:1313477	D	RGD:9068941	20200609	RGD			PMID:21532506|REF_RGD_ID:7243860
12054420	LTF	lactotransferrin	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1313477	D	RGD:9068941	20200609	RGD			PMID:23201854|REF_RGD_ID:7243106
12054420	LTF	lactotransferrin	gene	DOID:65	connective tissue disease		ISO	RGD:1313477	D	RGD:9068941	20200609	RGD			PMID:8296641|REF_RGD_ID:7243945
12054420	LTF	lactotransferrin	gene	DOID:8577	ulcerative colitis		ISO	RGD:1313477	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism|therapeutic	PMID:16640825|PMID:35999755
12054420	LTF	lactotransferrin	gene	DOID:8677	perinatal necrotizing enterocolitis		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16640825
12054420	LTF	lactotransferrin	gene	DOID:9000310	Lung Injury		ISO	RGD:1313477	D	RGD:9068941	20200609	RGD			PMID:16905637|REF_RGD_ID:7243109
12054420	LTF	lactotransferrin	gene	DOID:9001600	Wounds and Injuries		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16640825
12054420	LTF	lactotransferrin	gene	DOID:9001981	Weight Loss		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24587916
12054420	LTF	lactotransferrin	gene	DOID:9002795	Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy		ISO	RGD:1313477	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	PMID:28492532
12054420	LTF	lactotransferrin	gene	DOID:9002928	Colonic Neoplasms		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12079509
12054420	LTF	lactotransferrin	gene	DOID:9003507	Premature Birth		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16640825
12054420	LTF	lactotransferrin	gene	DOID:9003819	Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis		ISO	RGD:1313477	D	RGD:9068941	20200609	RGD			PMID:23201854|REF_RGD_ID:7243106
12054420	LTF	lactotransferrin	gene	DOID:9004484	Sepsis		ISO	RGD:1313477	D	RGD:9068941	20200609	RGD			PMID:23425819|REF_RGD_ID:7243861
12054420	LTF	lactotransferrin	gene	DOID:9004786	Carbon Tetrachloride Poisoning		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16141546
12054420	LTF	lactotransferrin	gene	DOID:9005372	Inflammation		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16141546
12054420	LTF	lactotransferrin	gene	DOID:9006024	Hypotension		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14563657
12054420	LTF	lactotransferrin	gene	DOID:9007188	Liver Neoplasms		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:12079509
12054420	LTF	lactotransferrin	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:16141546
12054420	LTF	lactotransferrin	gene	DOID:9008261	Chemically-Induced Disorders		ISO	RGD:1313477	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35999755
12054420	LTF	lactotransferrin	gene	DOID:9008821	Otitis Media with Effusion	treatment	ISO	RGD:1313477	D	RGD:9068941	20200609	RGD			PMID:21079169|REF_RGD_ID:11554025
12054420	LTF	lactotransferrin	gene	DOID:9008885	Staphylococcal Infections		ISO	RGD:1313477	D	RGD:9068941	20200609	RGD			PMID:10030017|REF_RGD_ID:7243953
12054420	LTF	lactotransferrin	gene	DOID:9008975	Gastrointestinal Hemorrhage		ISO	RGD:1313477	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:15651117
12054441	PEX11G	peroxisomal biogenesis factor 11 gamma	gene	DOID:0080490	mucolipidosis type IV		ISO	RGD:1316043	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Mucolipidosis type IV	PMID:11030752|PMID:11317355|PMID:28492532
12054441	PEX11G	peroxisomal biogenesis factor 11 gamma	gene	DOID:0110790	hereditary spastic paraplegia 39		ISO	RGD:1316043	D	RGD:8554872	20230314	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 39	PMID:28492532
12054456	OR56A4C	olfactory receptor family 56 subfamily A member 4C	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1344603	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	PMID:28492532
12054459	OR56B6	olfactory receptor family 56 subfamily B member 6	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1348653	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	PMID:28492532
12054462	INTS8	integrator complex subunit 8	gene	DOID:10283	prostate cancer		ISO	RGD:1604344	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	PMID:23265383
12054462	INTS8	integrator complex subunit 8	gene	DOID:2843	long QT syndrome		ISO	RGD:1604344	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:26132555
12054462	INTS8	integrator complex subunit 8	gene	DOID:9009083	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY		ISO	RGD:1604344	D	RGD:7240710	20191016	OMIM			
12054462	INTS8	integrator complex subunit 8	gene	DOID:9009083	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY		ISO	RGD:1604344	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: INTS8-related condition | ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity	PMID:25741868|PMID:28492532|PMID:28763441
12054492	MRPL39	mitochondrial ribosomal protein L39	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1348143	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Alzheimer disease	PMID:16369530|PMID:16921174|PMID:24691562|PMID:25741868
12054492	MRPL39	mitochondrial ribosomal protein L39	gene	DOID:3652	Leigh disease		ISO	RGD:1348143	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:25741868|PMID:37133451|PMID:8602753
12054492	MRPL39	mitochondrial ribosomal protein L39	gene	DOID:700	mitochondrial metabolism disease		ISO	RGD:1348143	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Mitochondrial disease	PMID:25741868|PMID:37133451|PMID:8602753
12054492	MRPL39	mitochondrial ribosomal protein L39	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1348143	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12054492	MRPL39	mitochondrial ribosomal protein L39	gene	DOID:9005393	Alzheimer's Disease, Early-Onset, with Cerebral Amyloid Angiopathy		ISO	RGD:1348143	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Alzheimer disease, early-onset, with cerebral amyloid angiopathy	PMID:16369530|PMID:19047566
12054492	MRPL39	mitochondrial ribosomal protein L39	gene	DOID:9005621	Combined Oxidative Phosphorylation Deficiency 59		ISO	RGD:1348143	D	RGD:7240710	20231213	OMIM			
12054492	MRPL39	mitochondrial ribosomal protein L39	gene	DOID:9005621	Combined Oxidative Phosphorylation Deficiency 59		ISO	RGD:1348143	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 59	PMID:25741868|PMID:37133451|PMID:8602753
12054509	EIF5A2	eukaryotic translation initiation factor 5A2	gene	DOID:0070562	Fanconi-Bickel syndrome		ISO	RGD:1314674	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Fanconi-Bickel syndrome	PMID:28492532
12054509	EIF5A2	eukaryotic translation initiation factor 5A2	gene	DOID:9002644	Premature Aging		ISO	RGD:1314674	D	RGD:9068941	20200609	RGD			PMID:21612665|REF_RGD_ID:10395359
12054517	ASIC4	acid sensing ion channel subunit family member 4	gene	DOID:0090049	paroxysmal nonkinesigenic dyskinesia 1		ISO	RGD:1604616	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia	PMID:28492532
12054517	ASIC4	acid sensing ion channel subunit family member 4	gene	DOID:0112321	alacrima, achalasia, and impaired intellectual development syndrome		ISO	RGD:1604616	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome	PMID:28492532
12054517	ASIC4	acid sensing ion channel subunit family member 4	gene	DOID:1148	polydactyly		ISO	RGD:1604616	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Polydactyly	
12054517	ASIC4	acid sensing ion channel subunit family member 4	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1604616	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
12054517	ASIC4	acid sensing ion channel subunit family member 4	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1604616	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12054531	FAXDC2	fatty acid hydroxylase domain containing 2	gene	DOID:12849	autistic disorder		ISO	RGD:1319694	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Autism	
12054531	FAXDC2	fatty acid hydroxylase domain containing 2	gene	DOID:676	juvenile rheumatoid arthritis		ISO	RGD:1319694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19565504
12054544	NEK8	NIMA related kinase 8	gene	DOID:0110861	autosomal recessive polycystic kidney disease		ISO	RGD:1552572	D	RGD:9068941	20220825	MouseDO		OMIM:263200	
12054544	NEK8	NIMA related kinase 8	gene	DOID:0111120	nephronophthisis 9		ISO	RGD:1315774	D	RGD:7240710	20180130	OMIM			
12054544	NEK8	NIMA related kinase 8	gene	DOID:0111120	nephronophthisis 9		ISO	RGD:1315774	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Nephronophthisis 9	PMID:16199547|PMID:17576681|PMID:18199800|PMID:22106379|PMID:23026745|PMID:23418306|PMID:25741868|PMID:26697755|PMID:26967905|PMID:28492532|PMID:32574212|PMID:36215968|PMID:37598857|PMID:9536098
12054544	NEK8	NIMA related kinase 8	gene	DOID:10787	premature menopause		ISO	RGD:1315774	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Premature menopause	PMID:23418306|PMID:25741868
12054544	NEK8	NIMA related kinase 8	gene	DOID:2975	cystic kidney disease		ISO	RGD:1315774	D	RGD:8554872	20241231	ClinVar		ClinVar Annotator: match by term: Familial cystic renal disease	PMID:25741868|PMID:26967905|PMID:28492532|PMID:32574212|PMID:36215968|PMID:37598857
12054544	NEK8	NIMA related kinase 8	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1315774	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:23418306|PMID:25741868|PMID:28492532
12054544	NEK8	NIMA related kinase 8	gene	DOID:557	kidney disease		ISO	RGD:1315774	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Kidney disease	PMID:25741868|PMID:28492532
12054544	NEK8	NIMA related kinase 8	gene	DOID:630	genetic disease		ISO	RGD:1315774	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12054544	NEK8	NIMA related kinase 8	gene	DOID:9001222	Renal-Hepatic-Pancreatic Dysplasia 2		ISO	RGD:1315774	D	RGD:7240710	20180130	OMIM			
12054544	NEK8	NIMA related kinase 8	gene	DOID:9001222	Renal-Hepatic-Pancreatic Dysplasia 2		ISO	RGD:1315774	D	RGD:8554872	20241231	ClinVar		ClinVar Annotator: match by term: Renal-hepatic-pancreatic dysplasia 2	PMID:19550299|PMID:23418306|PMID:25741868|PMID:25741876|PMID:26697755|PMID:26862157|PMID:26967905|PMID:28492532
12054544	NEK8	NIMA related kinase 8	gene	DOID:9009236	POLYCYSTIC KIDNEY DISEASE 8		ISO	RGD:1315774	D	RGD:7240710	20240925	OMIM			
12054544	NEK8	NIMA related kinase 8	gene	DOID:9009236	POLYCYSTIC KIDNEY DISEASE 8		ISO	RGD:1315774	D	RGD:8554872	20240924	ClinVar		ClinVar Annotator: match by term: Polycystic kidney disease 8	PMID:36215968|PMID:37598857
12054572	INTS6L	integrator complex subunit 6 like	gene	DOID:0060799	syndromic X-linked intellectual disability Lubs type		ISO	RGD:1343446	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type	PMID:25741868
12054572	INTS6L	integrator complex subunit 6 like	gene	DOID:0111823	autosomal hemophilia A		ISO	RGD:1343446	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A	PMID:31690835
12054572	INTS6L	integrator complex subunit 6 like	gene	DOID:12134	factor VIII deficiency		ISO	RGD:1343446	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Factor 8 deficiency, congenital	PMID:31690835
12054572	INTS6L	integrator complex subunit 6 like	gene	DOID:12849	autistic disorder		ISO	RGD:1343446	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
12054572	INTS6L	integrator complex subunit 6 like	gene	DOID:13501	Moebius syndrome		ISO	RGD:1343446	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum	
12054595	LIX1L	limb and CNS expressed 1 like	gene	DOID:0110243	cataract 46 juvenile-onset		ISO	RGD:1350339	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Cataract 46 juvenile-onset	PMID:29464339|PMID:31690835
12054595	LIX1L	limb and CNS expressed 1 like	gene	DOID:14699	thrombocytopenia-absent radius syndrome		ISO	RGD:1350339	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Radial aplasia-thrombocytopenia syndrome	PMID:17236129|PMID:22366785|PMID:22581968|PMID:24220582|PMID:26233629|PMID:27846804|PMID:28129423|PMID:28492532
12054595	LIX1L	limb and CNS expressed 1 like	gene	DOID:1540	parathyroid carcinoma		ISO	RGD:1350339	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Parathyroid carcinoma	PMID:28492532
12054595	LIX1L	limb and CNS expressed 1 like	gene	DOID:5419	schizophrenia		ISO	RGD:1350339	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
12054595	LIX1L	limb and CNS expressed 1 like	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1350339	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:28492532
12054611	ABHD18	abhydrolase domain containing 18	gene	DOID:0110722	neuronal ceroid lipofuscinosis 7		ISO	RGD:1604791	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 7	PMID:19177532|PMID:28492532
12054611	ABHD18	abhydrolase domain containing 18	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1604791	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	
12054634	PLEKHG4B	pleckstrin homology and RhoGEF domain containing G4B	gene	DOID:10283	prostate cancer		ISO	RGD:1606952	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	PMID:23265383
12054634	PLEKHG4B	pleckstrin homology and RhoGEF domain containing G4B	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1606952	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12054676	SUGT1	SGT1 homolog, MIS12 kinetochore complex assembly cochaperone	gene	DOID:0060391	chromosome 13q14 deletion syndrome		ISO	RGD:1316810	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome	
12054676	SUGT1	SGT1 homolog, MIS12 kinetochore complex assembly cochaperone	gene	DOID:1059	intellectual disability		ISO	RGD:1316810	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12054694	MIS18A	MIS18 kinetochore protein A	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1321877	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1	PMID:17237124|PMID:23512985|PMID:28492532
12054694	MIS18A	MIS18 kinetochore protein A	gene	DOID:0060898	Parkinson's disease 20		ISO	RGD:1321877	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Early-onset Parkinson disease 20	PMID:28492532
12054694	MIS18A	MIS18 kinetochore protein A	gene	DOID:0060953	ZTTK syndrome		ISO	RGD:1321877	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: ZTTK syndrome	PMID:25741868
12054694	MIS18A	MIS18 kinetochore protein A	gene	DOID:0070037	autosomal dominant intellectual developmental disorder 7		ISO	RGD:1321877	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: DYRK1A-related intellectual disability syndrome	PMID:17237124|PMID:23512985|PMID:28492532
12054694	MIS18A	MIS18 kinetochore protein A	gene	DOID:0111995	immunodeficiency 28		ISO	RGD:1321877	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 28	PMID:17237124|PMID:23512985|PMID:28492532
12054694	MIS18A	MIS18 kinetochore protein A	gene	DOID:9003178	Familial Platelet Disorder with Associated Myeloid Malignancy		ISO	RGD:1321877	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	PMID:17237124|PMID:23512985|PMID:28492532
12054706	BAIAP2L2	BAR/IMD domain containing adaptor protein 2 like 2	gene	DOID:0050762	adenylosuccinase lyase deficiency		ISO	RGD:1342805	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency	PMID:28492532
12054706	BAIAP2L2	BAR/IMD domain containing adaptor protein 2 like 2	gene	DOID:0090036	myoclonic dystonia 26		ISO	RGD:1342805	D	RGD:8554872	20230314	ClinVar		ClinVar Annotator: match by term: Myoclonic dystonia 26	PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532
12054706	BAIAP2L2	BAR/IMD domain containing adaptor protein 2 like 2	gene	DOID:0110735	neurodegeneration with brain iron accumulation 2A		ISO	RGD:1342805	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy	PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532
12054706	BAIAP2L2	BAR/IMD domain containing adaptor protein 2 like 2	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:1342805	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy	PMID:16783378|PMID:18570303|PMID:18799783|PMID:22213678|PMID:28492532
12054722	CCDC85C	coiled-coil domain containing 85C	gene	DOID:10908	hydrocephalus		ISO	RGD:1589818	D	RGD:9068941	20211029	RGD			PMID:31341137|REF_RGD_ID:150520163
12054722	CCDC85C	coiled-coil domain containing 85C	gene	DOID:10908	hydrocephalus		ISO	RGD:1613682	D	RGD:9068941	20220825	MouseDO		OMIM:123155 | OMIM:236600 | OMIM:236635 | OMIM:307000 | OMIM:615219	
12054722	CCDC85C	coiled-coil domain containing 85C	gene	DOID:9009238	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES		ISO	RGD:1344482	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder with hypertelorism and distinctive facies	PMID:25741868|PMID:38177409
12054742	TAL2	TAL bHLH transcription factor 2	gene	DOID:0050523	adult T-cell leukemia/lymphoma		ISO	RGD:1351744	D	RGD:9068941	20200609	RGD			PMID:1763056|REF_RGD_ID:1599285
12054742	TAL2	TAL bHLH transcription factor 2	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1351744	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy	PMID:10545611|PMID:17044012|PMID:17878207|PMID:18177472|PMID:18752264|PMID:19266496|PMID:27065010|PMID:28492532
12054742	TAL2	TAL bHLH transcription factor 2	gene	DOID:9952	acute lymphoblastic leukemia		ISO	RGD:1351744	D	RGD:7240710	20230505	OMIM			
12054754	CARD6	caspase recruitment domain family member 6	gene	DOID:0080600	COVID-19		ISO	RGD:1314062	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12054754	CARD6	caspase recruitment domain family member 6	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1314062	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12054761	TK1	thymidine kinase 1	gene	DOID:0080600	COVID-19		ISO	RGD:736473	D	RGD:9068941	20200611	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12054761	TK1	thymidine kinase 1	gene	DOID:1612	breast cancer		ISO	RGD:736473	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:10883887|REF_RGD_ID:2317242
12054761	TK1	thymidine kinase 1	gene	DOID:1827	idiopathic generalized epilepsy		ISO	RGD:736473	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Idiopathic generalized epilepsy	PMID:28492532
12054761	TK1	thymidine kinase 1	gene	DOID:2893	cervix carcinoma		ISO	RGD:736473	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:11474248|REF_RGD_ID:2317243
12054761	TK1	thymidine kinase 1	gene	DOID:3908	lung non-small cell carcinoma		ISO	RGD:736473	D	RGD:9068941	20200609	RGD		protein:increased expression:serum (human)	PMID:15583816|REF_RGD_ID:2317237
12054761	TK1	thymidine kinase 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:736473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12054761	TK1	thymidine kinase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28284560
12054761	TK1	thymidine kinase 1	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:736473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11420682
12054761	TK1	thymidine kinase 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:736473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12054761	TK1	thymidine kinase 1	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:736473	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15814641
12054772	MIR30D	microRNA mir-30d	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1344201	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21035526
12054772	MIR30D	microRNA mir-30d	gene	DOID:3021	acute kidney failure		ISO	RGD:1344201	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30682439
12054772	MIR30D	microRNA mir-30d	gene	DOID:557	kidney disease		ISO	RGD:1344201	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31697999
12054772	MIR30D	microRNA mir-30d	gene	DOID:9000784	Fibrosis		ISO	RGD:1344201	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31697999
12054772	MIR30D	microRNA mir-30d	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1344201	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21035526
12054772	MIR30D	microRNA mir-30d	gene	DOID:9002910	Hearing Loss, Noise-Induced		ISO	RGD:1344201	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23472202
12054772	MIR30D	microRNA mir-30d	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1344201	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22048643
12054845	AKAIN1	A-kinase anchor inhibitor 1	gene	DOID:0060406	chromosome 18p deletion syndrome		ISO	RGD:5131749	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Del(18p) syndrome	PMID:31690835
12054845	AKAIN1	A-kinase anchor inhibitor 1	gene	DOID:1059	intellectual disability		ISO	RGD:5131749	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12054877	NHLH1	nescient helix-loop-helix 1	gene	DOID:0081242	autoimmune interstitial lung, joint, and kidney disease		ISO	RGD:1321059	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autoimmune interstitial lung disease-arthritis syndrome	PMID:28492532
12054877	NHLH1	nescient helix-loop-helix 1	gene	DOID:1540	parathyroid carcinoma		ISO	RGD:1321059	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Parathyroid carcinoma	PMID:28492532
12054877	NHLH1	nescient helix-loop-helix 1	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1321059	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:28492532
12054882	CCL8	C-C motif chemokine ligand 8	gene	DOID:0060496	respiratory allergy		ISO	RGD:1349694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17085522
12054882	CCL8	C-C motif chemokine ligand 8	gene	DOID:0080600	COVID-19		ISO	RGD:1349694	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
12054882	CCL8	C-C motif chemokine ligand 8	gene	DOID:0080600	COVID-19		ISO	RGD:1349694	D	RGD:9068941	20200618	RGD		protein:increased expression:serum:	PMID:32416070|REF_RGD_ID:30296676
12054882	CCL8	C-C motif chemokine ligand 8	gene	DOID:0081267	graft-versus-host disease		ISO	RGD:1617609	D	RGD:9068941	20230504	RGD			PMID:19571824|REF_RGD_ID:4892067
12054882	CCL8	C-C motif chemokine ligand 8	gene	DOID:1205	allergic disease		ISO	RGD:1349694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
12054882	CCL8	C-C motif chemokine ligand 8	gene	DOID:13276	Mycoplasma pneumoniae pneumonia		ISO	RGD:1617609	D	RGD:9068941	20230504	RGD			PMID:16988274|REF_RGD_ID:4892091
12054882	CCL8	C-C motif chemokine ligand 8	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1349694	D	RGD:9068941	20200609	RGD			PMID:20970515|REF_RGD_ID:5131087
12054882	CCL8	C-C motif chemokine ligand 8	gene	DOID:4483	rhinitis		ISO	RGD:1349694	D	RGD:9068941	20200609	RGD			PMID:20625511|REF_RGD_ID:5131089
12054882	CCL8	C-C motif chemokine ligand 8	gene	DOID:552	pneumonia		ISO	RGD:1349694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21625544
12054882	CCL8	C-C motif chemokine ligand 8	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:1349694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17568789
12054882	CCL8	C-C motif chemokine ligand 8	gene	DOID:9001488	Human Influenza		ISO	RGD:1349694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23326326
12054882	CCL8	C-C motif chemokine ligand 8	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1349694	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12054882	CCL8	C-C motif chemokine ligand 8	gene	DOID:9007889	Nephrogenic Fibrosing Dermopathy		ISO	RGD:1349694	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20959327
12054887	TACC1	transforming acidic coiled-coil containing protein 1	gene	DOID:0090083	hypogonadotropic hypogonadism 2 with or without anosmia		ISO	RGD:1342908	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 2 with or without anosmia	PMID:12627230|PMID:19489874|PMID:22249004|PMID:28492532|PMID:8948562
12054887	TACC1	transforming acidic coiled-coil containing protein 1	gene	DOID:0110806	hereditary spastic paraplegia 54		ISO	RGD:1342908	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 54	PMID:28492532
12054887	TACC1	transforming acidic coiled-coil containing protein 1	gene	DOID:1826	epilepsy		ISO	RGD:1342908	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868
12054887	TACC1	transforming acidic coiled-coil containing protein 1	gene	DOID:607	paraplegia		ISO	RGD:1342908	D	RGD:8554872	20230314	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:28492532
12054918	COX7A2L	cytochrome c oxidase subunit 7A2 like	gene	DOID:3883	Lynch syndrome		ISO	RGD:1314534	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms	PMID:28492532
12054925	KLHL24	kelch like family member 24	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1603221	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:25741868|PMID:27889062|PMID:28492532|PMID:30715372
12054925	KLHL24	kelch like family member 24	gene	DOID:0080511	epidermolysis bullosa simplex generalized type		ISO	RGD:1603221	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type | ClinVar Annotator: match by term: Generalized EBS	PMID:25741868|PMID:27798626|PMID:27889062|PMID:28492532|PMID:29779254|PMID:30120936|PMID:30226531|PMID:30715372|PMID:34292882|PMID:34740256|PMID:35975634
12054925	KLHL24	kelch like family member 24	gene	DOID:0080556	congenital disorder of glycosylation Id		ISO	RGD:1603221	D	RGD:8554872	20230314	ClinVar		ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1D	PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532
12054925	KLHL24	kelch like family member 24	gene	DOID:0080579	3-methylcrotonyl-CoA carboxylase 1 deficiency		ISO	RGD:1603221	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: 3 Alpha methylcrotonylglycinuria 1	PMID:11181649|PMID:15359379|PMID:22642865|PMID:28492532
12054925	KLHL24	kelch like family member 24	gene	DOID:0111546	Currarino syndrome		ISO	RGD:1603221	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Currarino triad	PMID:21681106|PMID:27549440
12054925	KLHL24	kelch like family member 24	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1603221	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:25741868|PMID:27889062|PMID:30715372
12054925	KLHL24	kelch like family member 24	gene	DOID:630	genetic disease		ISO	RGD:1603221	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:27889062|PMID:28492532|PMID:30715372
12054925	KLHL24	kelch like family member 24	gene	DOID:9000523	Generalized Epidermolysis Bullosa Simplex 1B		ISO	RGD:1603221	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Epidermolysis bullosa simplex, Koebner type	PMID:25741868|PMID:27798626|PMID:27889062|PMID:28492532|PMID:29779254|PMID:30120936|PMID:30226531|PMID:30715372|PMID:34292882|PMID:34740256|PMID:35975634
12054925	KLHL24	kelch like family member 24	gene	DOID:9006455	Generalized Epidermolysis Bullosa Simplex 6 with Scarring and Hair Loss		ISO	RGD:1603221	D	RGD:7240710	20190315	OMIM			
12054925	KLHL24	kelch like family member 24	gene	DOID:9006455	Generalized Epidermolysis Bullosa Simplex 6 with Scarring and Hair Loss		ISO	RGD:1603221	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss | ClinVar Annotator: match by term: Epidermolysis bullosa simplex, generalized, with scarring and hair loss	PMID:25741868|PMID:27798626|PMID:27889062|PMID:28492532|PMID:29779254|PMID:30120936|PMID:30226531|PMID:30715372|PMID:31649980|PMID:34292882|PMID:34740256|PMID:35975634
12054925	KLHL24	kelch like family member 24	gene	DOID:9009148	Hypertrophic Cardiomyopathy 29		ISO	RGD:1603221	D	RGD:7240710	20230215	OMIM			
12054925	KLHL24	kelch like family member 24	gene	DOID:9009148	Hypertrophic Cardiomyopathy 29		ISO	RGD:1603221	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies | ClinVar Annotator: match by term: KLHL24-related condition	PMID:25741868|PMID:27798626|PMID:27889062|PMID:28492532|PMID:29779254|PMID:30120936|PMID:30715372|PMID:34292882|PMID:35975634
12054946	UBB	ubiquitin B	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1344008	D	RGD:9068941	20210514	CTD		CTD Direct Evidence: marker/mechanism	PMID:22994484
12054951	CLUAP1	clusterin associated protein 1	gene	DOID:0110097	short-rib thoracic dysplasia 9 with or without polydactyly		ISO	RGD:1354421	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Saldino-Mainzer syndrome	PMID:28492532
12054951	CLUAP1	clusterin associated protein 1	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1354421	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis	PMID:28492532|PMID:28679688
12054951	CLUAP1	clusterin associated protein 1	gene	DOID:0111705	oculoectodermal syndrome		ISO	RGD:1354421	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome	PMID:26820066
12054951	CLUAP1	clusterin associated protein 1	gene	DOID:14791	Leber congenital amaurosis		ISO	RGD:1354421	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis	PMID:26820066
12054951	CLUAP1	clusterin associated protein 1	gene	DOID:1826	epilepsy		ISO	RGD:1354421	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:28492532
12054951	CLUAP1	clusterin associated protein 1	gene	DOID:1827	idiopathic generalized epilepsy		ISO	RGD:1354421	D	RGD:8554872	20230314	ClinVar		ClinVar Annotator: match by term: Idiopathic generalized epilepsy	PMID:28492532
12054951	CLUAP1	clusterin associated protein 1	gene	DOID:1933	Rubinstein-Taybi syndrome		ISO	RGD:1354421	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Rubinstein-Taybi syndrome	PMID:12114483|PMID:17052327|PMID:17855048|PMID:18688873|PMID:18792986|PMID:19833603|PMID:21302340|PMID:22307725|PMID:22664659|PMID:23063576|PMID:25805166|PMID:27257017|PMID:28492532
12054951	CLUAP1	clusterin associated protein 1	gene	DOID:8501	fundus dystrophy		ISO	RGD:1354421	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:25741868|PMID:28492532
12054970	NDUFV2	NADH:ubiquinone oxidoreductase core subunit V2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:734286	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14729820
12054970	NDUFV2	NADH:ubiquinone oxidoreductase core subunit V2	gene	DOID:0060406	chromosome 18p deletion syndrome		ISO	RGD:734286	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Del(18p) syndrome	PMID:31690835
12054970	NDUFV2	NADH:ubiquinone oxidoreductase core subunit V2	gene	DOID:0060536	mitochondrial complex I deficiency		ISO	RGD:734286	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF | ClinVar Annotator: match by term: Mitochondrial complex I deficiency	PMID:25741868|PMID:28492532|PMID:9570948
12054970	NDUFV2	NADH:ubiquinone oxidoreductase core subunit V2	gene	DOID:0112074	nuclear type mitochondrial complex I deficiency 1		ISO	RGD:734286	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex I deficiency, nuclear type 1	PMID:25741868|PMID:28492532|PMID:9570948
12054970	NDUFV2	NADH:ubiquinone oxidoreductase core subunit V2	gene	DOID:0112092	nuclear type mitochondrial complex I deficiency 7		ISO	RGD:734286	D	RGD:7240710	20190315	OMIM			
12054970	NDUFV2	NADH:ubiquinone oxidoreductase core subunit V2	gene	DOID:0112092	nuclear type mitochondrial complex I deficiency 7		ISO	RGD:734286	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 | ClinVar Annotator: match by term: NDUFV2-related condition	PMID:17576681|PMID:25741868|PMID:26008862|PMID:28492532|PMID:30369941|PMID:9536098|PMID:9570948
12054970	NDUFV2	NADH:ubiquinone oxidoreductase core subunit V2	gene	DOID:1059	intellectual disability		ISO	RGD:734286	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12054970	NDUFV2	NADH:ubiquinone oxidoreductase core subunit V2	gene	DOID:14330	Parkinson's disease	susceptibility	ISO	RGD:734286	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.A29V	PMID:9570948|REF_RGD_ID:2302386
12054970	NDUFV2	NADH:ubiquinone oxidoreductase core subunit V2	gene	DOID:3312	bipolar disorder		ISO	RGD:734286	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19135101
12054970	NDUFV2	NADH:ubiquinone oxidoreductase core subunit V2	gene	DOID:5419	schizophrenia		ISO	RGD:734286	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19135101
12054970	NDUFV2	NADH:ubiquinone oxidoreductase core subunit V2	gene	DOID:543	dystonia		ISO	RGD:734286	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:25817843|PMID:28492532
12054970	NDUFV2	NADH:ubiquinone oxidoreductase core subunit V2	gene	DOID:630	genetic disease		ISO	RGD:734286	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12754703|PMID:26008862|PMID:28492532
12054970	NDUFV2	NADH:ubiquinone oxidoreductase core subunit V2	gene	DOID:890	mitochondrial encephalomyopathy		ISO	RGD:734286	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:14729820
12054970	NDUFV2	NADH:ubiquinone oxidoreductase core subunit V2	gene	DOID:9002877	Parkinson's Disease, Mitochondrial		ISO	RGD:734286	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Parkinson disease, mitochondrial	PMID:25741868|PMID:28492532|PMID:9570948
12054982	PHYKPL	5-phosphohydroxy-L-lysine phospho-lyase	gene	DOID:0080733	Ehlers-Danlos syndrome dermatosparaxis type		ISO	RGD:1602671	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome, dermatosparaxis type	PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145
12054982	PHYKPL	5-phosphohydroxy-L-lysine phospho-lyase	gene	DOID:14748	Sotos syndrome		ISO	RGD:1602671	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Sotos syndrome	PMID:16770806|PMID:17090394|PMID:21567906|PMID:23599694|PMID:23913520|PMID:24819041|PMID:28128410|PMID:28492532|PMID:33389145
12054982	PHYKPL	5-phosphohydroxy-L-lysine phospho-lyase	gene	DOID:9003537	Phosphohydroxylysinuria		ISO	RGD:1602671	D	RGD:7240710	20180130	OMIM			
12054982	PHYKPL	5-phosphohydroxy-L-lysine phospho-lyase	gene	DOID:9003537	Phosphohydroxylysinuria		ISO	RGD:1602671	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Phosphohydroxylysinuria	PMID:23242558
12054999	SH3BP5L	SH3 binding domain protein 5 like	gene	DOID:0080418	developmental and epileptic encephalopathy 54		ISO	RGD:1606500	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 54	PMID:25741868
12055011	LOC484969	zinc finger protein 177	gene	DOID:12849	autistic disorder		ISO	RGD:1353253	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
12055011	LOC484969	zinc finger protein 177	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1353253	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
12055026	NCK1	NCK adaptor protein 1	gene	DOID:1184	nephrotic syndrome		ISO	RGD:1321736	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19443634
12055026	NCK1	NCK adaptor protein 1	gene	DOID:576	proteinuria		ISO	RGD:1321736	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19443634
12055026	NCK1	NCK adaptor protein 1	gene	DOID:9001542	Albuminuria		ISO	RGD:1321736	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19443634
12055026	NCK1	NCK adaptor protein 1	gene	DOID:9008754	Primary Lymphedema with Myelodysplasia		ISO	RGD:1321736	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Emberger syndrome	PMID:22147895|PMID:25741868
12055067	USP37	ubiquitin specific peptidase 37	gene	DOID:0080092	myofibrillar myopathy 1		ISO	RGD:1315889	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Desmin-related myofibrillar myopathy	PMID:28492532
12055067	USP37	ubiquitin specific peptidase 37	gene	DOID:0090049	paroxysmal nonkinesigenic dyskinesia 1		ISO	RGD:1315889	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Paroxysmal nonkinesigenic dyskinesia	PMID:28492532
12055067	USP37	ubiquitin specific peptidase 37	gene	DOID:0112321	alacrima, achalasia, and impaired intellectual development syndrome		ISO	RGD:1315889	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Alacrima, achalasia, and mental retardation syndrome	PMID:28492532
12055067	USP37	ubiquitin specific peptidase 37	gene	DOID:4810	cerebrotendinous xanthomatosis		ISO	RGD:1315889	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cerebrotendinous Xanthomatosis	PMID:28492532
12055067	USP37	ubiquitin specific peptidase 37	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1315889	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:730902	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11796754
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:0080431	developmental and epileptic encephalopathy 19		ISO	RGD:730902	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 19	PMID:16718694|PMID:18414213|PMID:24623842|PMID:25741868|PMID:26467025|PMID:26918889|PMID:27353043|PMID:27521439|PMID:28492532|PMID:28554332|PMID:29389947|PMID:29655203|PMID:32047208|PMID:32238909
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:0080431	developmental and epileptic encephalopathy 19	susceptibility	ISO	RGD:730902	D	RGD:7240710	20241218	OMIM			
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:0111314	idiopathic generalized epilepsy 13		ISO	RGD:730902	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 | ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 13	PMID:11992121|PMID:16530959|PMID:16569738|PMID:18414213|PMID:18534981|PMID:20551311|PMID:21714819|PMID:24623842|PMID:25741868|PMID:26467025|PMID:26918889|PMID:27353043|PMID:27521439|PMID:28251550|PMID:28492532|PMID:28837158|PMID:29655203|PMID:32238909
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:0111314	idiopathic generalized epilepsy 13	susceptibility	ISO	RGD:730902	D	RGD:7240710	20241218	OMIM			
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:730902	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:28492532
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:1059	intellectual disability		ISO	RGD:730902	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	PMID:25741868|PMID:28492532
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:12849	autistic disorder		ISO	RGD:730902	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18821008
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:13413	hepatic encephalopathy		ISO	RGD:61855	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain	PMID:15929193|REF_RGD_ID:6480237
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:13413	hepatic encephalopathy		ISO	RGD:730902	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15929193
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:1825	childhood absence epilepsy		ISO	RGD:730902	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4	PMID:16718694|PMID:25741868|PMID:28492532
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:1826	epilepsy		ISO	RGD:730902	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Intractable seizure | ClinVar Annotator: match by term: Seizure	PMID:16530959|PMID:16569738|PMID:18414213|PMID:24623842|PMID:24909990|PMID:25741868|PMID:26467025|PMID:27353043|PMID:27521439|PMID:28251550|PMID:28492532|PMID:29655203
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:1826	epilepsy		ISO	RGD:730902	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Intractable seizure	PMID:24623842|PMID:25741868|PMID:26918889|PMID:27353043|PMID:27521439|PMID:28492532|PMID:29655203
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:1827	idiopathic generalized epilepsy		ISO	RGD:730902	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Generalised epilepsy | ClinVar Annotator: match by term: Idiopathic generalized epilepsy	PMID:16199547|PMID:16530959|PMID:16569738|PMID:16718694|PMID:17576681|PMID:18414213|PMID:21703448|PMID:22190369|PMID:24623842|PMID:24811917|PMID:25741868|PMID:26467025|PMID:26918889|PMID:27353043|PMID:27521439|PMID:27622563|PMID:28251550|PMID:28492532|PMID:28554332|PMID:28837158|PMID:28864462|PMID:29186148|PMID:29655203|PMID:31164858|PMID:32238909|PMID:9536098
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:1827	idiopathic generalized epilepsy		ISO	RGD:730902	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Idiopathic generalized epilepsy	PMID:16199547|PMID:16530959|PMID:16569738|PMID:16718694|PMID:17576681|PMID:18414213|PMID:21703448|PMID:22190369|PMID:22539854|PMID:22750526|PMID:23934111|PMID:24407264|PMID:24623842|PMID:24811917|PMID:25741868|PMID:26467025|PMID:26918889|PMID:27353043|PMID:27521439|PMID:27622563|PMID:28251550|PMID:28492532|PMID:28540321|PMID:28554332|PMID:28837158|PMID:28864462|PMID:29186148|PMID:29655203|PMID:31164858|PMID:31471553|PMID:31785789|PMID:32238909|PMID:35937053|PMID:37809401|PMID:9536098
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:4890	juvenile myoclonic epilepsy		ISO	RGD:730902	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Juvenile myoclonic epilepsy	
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:4990	essential tremor		ISO	RGD:730902	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15765150
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:5119	ovarian cyst		ISO	RGD:730902	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239663
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:630	genetic disease		ISO	RGD:730902	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16530959|PMID:16569738|PMID:18414213|PMID:21703448|PMID:24623842|PMID:25741868|PMID:26467025|PMID:26918889|PMID:27521439|PMID:27622563|PMID:28251550|PMID:28492532|PMID:35937053|PMID:37809401
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:9001793	Generalized Epilepsy		ISO	RGD:730902	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:25741868
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:9002910	Hearing Loss, Noise-Induced		ISO	RGD:61855	D	RGD:9068941	20231230	RGD			PMID:22428005|REF_RGD_ID:401940127
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:730902	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental abnormality	
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:9004866	Ataxia		ISO	RGD:730902	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12404077
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:9006302	Binge Drinking		ISO	RGD:61855	D	RGD:9068941	20240328	RGD		associated with human immunodeficiency virus infectious disease;mRNA:altered expression:liver,spleen (rat)	PMID:23413777|REF_RGD_ID:405100715
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:730902	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:18414213|PMID:25741868|PMID:28492532
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:9007204	Dysbiosis		ISO	RGD:62147	D	RGD:9068941	20250104	RGD		associated with alcohol dependence;mRNA:decreased expression:hippocampus	PMID:30417952|REF_RGD_ID:596938163
12055108	GABRA1	gamma-aminobutyric acid type A receptor subunit alpha1	gene	DOID:9009061	Childhood Absence Epilepsy 2		ISO	RGD:730902	D	RGD:8554872	20240716	ClinVar		ClinVar Annotator: match by term: Epilepsy, childhood absence 2	PMID:16718694|PMID:22190369|PMID:22539854|PMID:22750526|PMID:24407264|PMID:24811917|PMID:28492532|PMID:31471553
12055123	DIP2A	disco interacting protein 2 homolog A	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1319135	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:25741868
12055123	DIP2A	disco interacting protein 2 homolog A	gene	DOID:0060609	microcephalic osteodysplastic primordial dwarfism type II		ISO	RGD:1317412	D	RGD:9068941	20220825	MouseDO		OMIM:210720	
12055123	DIP2A	disco interacting protein 2 homolog A	gene	DOID:0110122	Axenfeld-Rieger syndrome type 3		ISO	RGD:1319135	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 3	PMID:11170889|PMID:21681106
12055123	DIP2A	disco interacting protein 2 homolog A	gene	DOID:12849	autistic disorder		ISO	RGD:1319135	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
12055123	DIP2A	disco interacting protein 2 homolog A	gene	DOID:2843	long QT syndrome		ISO	RGD:1319135	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:26132555
12055166	KIAA0753	KIAA0753	gene	DOID:0050592	asphyxiating thoracic dystrophy		ISO	RGD:1605106	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Jeune thoracic dystrophy	PMID:25741868|PMID:28492532|PMID:29138412|PMID:31816441|PMID:34529350
12055166	KIAA0753	KIAA0753	gene	DOID:0080155	very long chain acyl-CoA dehydrogenase deficiency		ISO	RGD:1605106	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Very long chain acyl-CoA dehydrogenase deficiency	PMID:28492532
12055166	KIAA0753	KIAA0753	gene	DOID:0080453	developmental and epileptic encephalopathy 25		ISO	RGD:1605106	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25	PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532
12055166	KIAA0753	KIAA0753	gene	DOID:0110332	Leber congenital amaurosis 4		ISO	RGD:1605106	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Leber congenital amaurosis 4	PMID:10615133|PMID:15249368|PMID:15347646|PMID:28492532
12055166	KIAA0753	KIAA0753	gene	DOID:0110681	congenital myasthenic syndrome 2A		ISO	RGD:1605106	D	RGD:8554872	20230314	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome 2A	PMID:28492532
12055166	KIAA0753	KIAA0753	gene	DOID:630	genetic disease		ISO	RGD:1605106	D	RGD:8554872	20230221	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532|PMID:29138412
12055166	KIAA0753	KIAA0753	gene	DOID:9005357	Orofaciodigital Syndrome XV		ISO	RGD:1605106	D	RGD:7240710	20190315	OMIM			
12055166	KIAA0753	KIAA0753	gene	DOID:9005357	Orofaciodigital Syndrome XV		ISO	RGD:1605106	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Orofaciodigital syndrome XV	PMID:17576681|PMID:25741868|PMID:26643951|PMID:28492532|PMID:29138412|PMID:34523780|PMID:34529350|PMID:9536098
12055166	KIAA0753	KIAA0753	gene	DOID:9005615	Joubert Syndrome 38		ISO	RGD:1605106	D	RGD:7240710	20210825	OMIM			
12055166	KIAA0753	KIAA0753	gene	DOID:9005615	Joubert Syndrome 38		ISO	RGD:1605106	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Joubert syndrome 38	PMID:17576681|PMID:25741868|PMID:26643951|PMID:28220259|PMID:28492532|PMID:29138412|PMID:34523780|PMID:9536098
12055166	KIAA0753	KIAA0753	gene	DOID:9008070	Short-Rib Thoracic Dysplasia 21 without Polydactyly		ISO	RGD:1605106	D	RGD:7240710	20210825	OMIM			
12055166	KIAA0753	KIAA0753	gene	DOID:9008070	Short-Rib Thoracic Dysplasia 21 without Polydactyly		ISO	RGD:1605106	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Short-rib thoracic dysplasia 21 without polydactyly	PMID:25741868|PMID:28492532|PMID:29138412|PMID:31816441|PMID:34016807|PMID:34523780|PMID:34529350
12055194	FGF1	fibroblast growth factor 1	gene	DOID:0080409	familial adenomatous polyposis 1		ISO	RGD:735698	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Familial adenomatous polyposis 1	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
12055194	FGF1	fibroblast growth factor 1	gene	DOID:10652	Alzheimer's disease		ISO	RGD:735698	D	RGD:9068941	20200609	RGD			PMID:20079650|REF_RGD_ID:5509878
12055194	FGF1	fibroblast growth factor 1	gene	DOID:11054	urinary bladder cancer		ISO	RGD:735698	D	RGD:9068941	20200609	RGD			PMID:11908679|REF_RGD_ID:2290291
12055194	FGF1	fibroblast growth factor 1	gene	DOID:1240	leukemia		ISO	RGD:735698	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17219402
12055194	FGF1	fibroblast growth factor 1	gene	DOID:127	leiomyoma	disease_progression	ISO	RGD:735698	D	RGD:9068941	20200609	RGD		protein:increased expression:uterus	PMID:16139411|REF_RGD_ID:2290287
12055194	FGF1	fibroblast growth factor 1	gene	DOID:1380	endometrial cancer	disease_progression	ISO	RGD:735698	D	RGD:9068941	20200609	RGD		mRNA:increased expression:myometrium	PMID:8685603|REF_RGD_ID:2298516
12055194	FGF1	fibroblast growth factor 1	gene	DOID:2316	brain ischemia		ISO	RGD:2605	D	RGD:9068941	20200609	RGD			PMID:19497570|REF_RGD_ID:5509879
12055194	FGF1	fibroblast growth factor 1	gene	DOID:2316	brain ischemia		ISO	RGD:735698	D	RGD:9068941	20200609	RGD		Rat model using human FGF1	PMID:16635575|REF_RGD_ID:5509881
12055194	FGF1	fibroblast growth factor 1	gene	DOID:2394	ovarian cancer	disease_progression	ISO	RGD:735698	D	RGD:9068941	20200609	RGD		mRNA:increased expression:ovary	PMID:14613644|REF_RGD_ID:2290288
12055194	FGF1	fibroblast growth factor 1	gene	DOID:2671	transitional cell carcinoma	disease_progression	ISO	RGD:735698	D	RGD:9068941	20200609	RGD		protein:increased expression:urine, urinary bladder	PMID:7690426|REF_RGD_ID:2298518
12055194	FGF1	fibroblast growth factor 1	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:735698	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16324872
12055194	FGF1	fibroblast growth factor 1	gene	DOID:5419	schizophrenia		ISO	RGD:735698	D	RGD:9068941	20200609	RGD		GWAS result	PMID:17893707|REF_RGD_ID:5509880
12055194	FGF1	fibroblast growth factor 1	gene	DOID:5844	myocardial infarction	treatment	ISO	RGD:735698	D	RGD:9068941	20200609	RGD			PMID:24200746|REF_RGD_ID:10449026
12055194	FGF1	fibroblast growth factor 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2605	D	RGD:9068941	20200609	RGD			PMID:20488178|PMID:8662542|REF_RGD_ID:5509876|REF_RGD_ID:5509877
12055194	FGF1	fibroblast growth factor 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:735698	D	RGD:9068941	20200609	RGD			PMID:21663406|REF_RGD_ID:5509875
12055194	FGF1	fibroblast growth factor 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:735698	D	RGD:9068941	20200609	RGD		Human FGF1 used in rat model of spinal cord injury	PMID:18482974|REF_RGD_ID:2317692
12055194	FGF1	fibroblast growth factor 1	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:735698	D	RGD:9068941	20200609	RGD		associated with Cervix Neoplasms;mRNA:increased expression:lymph node	PMID:17242701|REF_RGD_ID:2290286
12055194	FGF1	fibroblast growth factor 1	gene	DOID:9001472	Nasal Polyps		ISO	RGD:735698	D	RGD:9068941	20200609	RGD			PMID:16720444|REF_RGD_ID:8655569
12055194	FGF1	fibroblast growth factor 1	gene	DOID:9002762	Ovarian Neoplasms		ISO	RGD:735698	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25174399
12055194	FGF1	fibroblast growth factor 1	gene	DOID:9003566	Mesothelioma		ISO	RGD:735698	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15878867
12055194	FGF1	fibroblast growth factor 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2605	D	RGD:9068941	20200609	RGD			PMID:19497570|REF_RGD_ID:5509879
12055194	FGF1	fibroblast growth factor 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:735698	D	RGD:9068941	20200609	RGD		Rat model using human FGF1	PMID:16635575|REF_RGD_ID:5509881
12055194	FGF1	fibroblast growth factor 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:735698	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12055194	FGF1	fibroblast growth factor 1	gene	DOID:9004657	Weight Gain		ISO	RGD:735698	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19030233
12055194	FGF1	fibroblast growth factor 1	gene	DOID:9006024	Hypotension		ISO	RGD:735698	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9233905
12055194	FGF1	fibroblast growth factor 1	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:735698	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
12055194	FGF1	fibroblast growth factor 1	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:735698	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12055194	FGF1	fibroblast growth factor 1	gene	DOID:9296	cleft lip		ISO	RGD:735698	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs34010 (human)	PMID:24613087|REF_RGD_ID:11567264
12055209	CHIC1	cysteine rich hydrophobic domain 1	gene	DOID:0060799	syndromic X-linked intellectual disability Lubs type		ISO	RGD:1349014	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type	PMID:25741868
12055209	CHIC1	cysteine rich hydrophobic domain 1	gene	DOID:0080600	COVID-19		ISO	RGD:1349014	D	RGD:9068941	20200625	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12055209	CHIC1	cysteine rich hydrophobic domain 1	gene	DOID:0111823	autosomal hemophilia A		ISO	RGD:1349014	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A	PMID:31690835
12055209	CHIC1	cysteine rich hydrophobic domain 1	gene	DOID:10283	prostate cancer		ISO	RGD:1349014	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	
12055209	CHIC1	cysteine rich hydrophobic domain 1	gene	DOID:12134	factor VIII deficiency		ISO	RGD:1349014	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Factor 8 deficiency, congenital	PMID:31690835
12055209	CHIC1	cysteine rich hydrophobic domain 1	gene	DOID:12849	autistic disorder		ISO	RGD:1349014	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
12055229	FN3K	fructosamine 3 kinase	gene	DOID:9001793	Generalized Epilepsy		ISO	RGD:1350348	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy	PMID:28492532
12055230	GPN2	GPN-loop GTPase 2	gene	DOID:0110352	retinitis pigmentosa 59		ISO	RGD:1603309	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa 59	PMID:28492532
12055239	DAB1	DAB adaptor protein 1	gene	DOID:0050952	spastic ataxia		ISO	RGD:1353804	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Spastic ataxia	PMID:25741868
12055239	DAB1	DAB adaptor protein 1	gene	DOID:0050984	spinocerebellar ataxia type 37		ISO	RGD:1353804	D	RGD:7240710	20190315	OMIM			
12055239	DAB1	DAB adaptor protein 1	gene	DOID:0050984	spinocerebellar ataxia type 37		ISO	RGD:1353804	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: DAB1-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia type 37	PMID:23700170|PMID:25741868|PMID:28492532|PMID:28686858|PMID:29939198
12055239	DAB1	DAB adaptor protein 1	gene	DOID:0060673	Peters anomaly		ISO	RGD:1353804	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Irido-corneo-trabecular dysgenesis	PMID:26893459
12055239	DAB1	DAB adaptor protein 1	gene	DOID:12849	autistic disorder		ISO	RGD:1353804	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15820235
12055239	DAB1	DAB adaptor protein 1	gene	DOID:12849	autistic disorder		ISO	RGD:1353804	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:cerebellum, Brodmann area 9 (human)	PMID:15820235|REF_RGD_ID:2317973
12055239	DAB1	DAB adaptor protein 1	gene	DOID:1824	status epilepticus		ISO	RGD:628770	D	RGD:9068941	20200609	RGD		protein:increased expression:dentate gyrus (rat)	PMID:17314278|REF_RGD_ID:2317783
12055267	GOSR2	golgi SNAP receptor complex member 2	gene	DOID:0050565	autosomal recessive nonsyndromic deafness		ISO	RGD:731739	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Autosomal recessive nonsyndromic deafness	PMID:35802133|PMID:37074134
12055267	GOSR2	golgi SNAP receptor complex member 2	gene	DOID:0060224	atrial fibrillation		ISO	RGD:731739	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
12055267	GOSR2	golgi SNAP receptor complex member 2	gene	DOID:0111449	progressive myoclonus epilepsy 6		ISO	RGD:731739	D	RGD:7240710	20180130	OMIM			
12055267	GOSR2	golgi SNAP receptor complex member 2	gene	DOID:0111449	progressive myoclonus epilepsy 6		ISO	RGD:731739	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: GOSR2-related condition | ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 6	PMID:16199547|PMID:19057520|PMID:21549339|PMID:23449775|PMID:24458321|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28982678|PMID:29855340|PMID:31440721|PMID:32032478|PMID:33639315|PMID:34167170|PMID:37895210
12055267	GOSR2	golgi SNAP receptor complex member 2	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:731739	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:38922859
12055267	GOSR2	golgi SNAP receptor complex member 2	gene	DOID:630	genetic disease		ISO	RGD:731739	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16199547|PMID:17576681|PMID:19057520|PMID:21549339|PMID:23449775|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31440721|PMID:32032478|PMID:34167170|PMID:37895210|PMID:9536098
12055267	GOSR2	golgi SNAP receptor complex member 2	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:731739	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy	PMID:16199547|PMID:17576681|PMID:19057520|PMID:21549339|PMID:23449775|PMID:24458321|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532|PMID:29855340|PMID:33639315|PMID:9536098
12055267	GOSR2	golgi SNAP receptor complex member 2	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:731739	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Progressive myoclonic epilepsy	PMID:16199547|PMID:17576681|PMID:19057520|PMID:21549339|PMID:23449775|PMID:24458321|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28982678|PMID:29855340|PMID:30363482|PMID:33639315|PMID:9536098
12055267	GOSR2	golgi SNAP receptor complex member 2	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:731739	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Progressive myoclonic epilepsy	PMID:16199547|PMID:17576681|PMID:19057520|PMID:21549339|PMID:23449775|PMID:24458321|PMID:25326637|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28982678|PMID:29855340|PMID:30363482|PMID:31440721|PMID:32032478|PMID:33639315|PMID:34167170|PMID:37895210|PMID:9536098
12055267	GOSR2	golgi SNAP receptor complex member 2	gene	DOID:9003754	MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES		ISO	RGD:731739	D	RGD:7240710	20230301	OMIM			
12055267	GOSR2	golgi SNAP receptor complex member 2	gene	DOID:9003754	MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES		ISO	RGD:731739	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy, congenital, with or without seizures	PMID:16199547|PMID:17576681|PMID:21549339|PMID:23449775|PMID:24458321|PMID:25326637|PMID:25741868|PMID:28492532|PMID:28982678|PMID:29855340|PMID:31440721|PMID:33639315|PMID:34167170|PMID:37895210|PMID:9536098
12055267	GOSR2	golgi SNAP receptor complex member 2	gene	DOID:9004538	Hearing Loss		ISO	RGD:731739	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Nonsyndromic Hearing Loss, Recessive	PMID:35802133|PMID:37074134
12055267	GOSR2	golgi SNAP receptor complex member 2	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:731739	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Myoclonus epilepsy	PMID:16199547|PMID:21549339|PMID:25326637|PMID:25741868|PMID:28492532|PMID:31440721|PMID:34167170|PMID:37895210
12055267	GOSR2	golgi SNAP receptor complex member 2	gene	DOID:9884	muscular dystrophy		ISO	RGD:731739	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy	PMID:21549339|PMID:23449775|PMID:24458321|PMID:25741868|PMID:28492532|PMID:28982678|PMID:29855340|PMID:33639315
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:0050861	colorectal adenocarcinoma		ISO	RGD:1347443	D	RGD:9068941	20221028	RGD		mRNA:increased expression:colorectum (human)	PMID:11358845|REF_RGD_ID:155631271
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:0080519	PAPA syndrome		ISO	RGD:1347443	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Familial recurrent arthritis	PMID:28492532
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:0110225	Brugada syndrome 8		ISO	RGD:1347443	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Brugada syndrome 8	PMID:28492532
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:0111806	syndromic microphthalmia 5		ISO	RGD:1347443	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome	PMID:26893459
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:0111807	syndromic microphthalmia 9		ISO	RGD:1347443	D	RGD:7240710	20200527	OMIM			
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:0111807	syndromic microphthalmia 9		ISO	RGD:1347443	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Matthew-Wood syndrome | ClinVar Annotator: match by term: Microphthalmia syndromic 9 | ClinVar Annotator: match by term: Pulmonary agenesis microphthalmi and diaphragmatic defect | ClinVar Annotator: match by term: STRA6-related condition	PMID:11857549|PMID:16199547|PMID:17273977|PMID:17503335|PMID:19213032|PMID:19309693|PMID:19839040|PMID:22283518|PMID:22686418|PMID:25044680|PMID:25741868|PMID:26373900|PMID:28492532|PMID:30639323
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:1059	intellectual disability		ISO	RGD:1347443	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17273977
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:10629	microphthalmia		ISO	RGD:1347443	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Microphthalmia	PMID:25741868
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:13042	persistent fetal circulation syndrome		ISO	RGD:1347443	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17273977
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:13641	exfoliation syndrome		ISO	RGD:1347443	D	RGD:9068941	20221103	RGD		mRNA:decreased expression:iris, retina (human)	PMID:30986821|REF_RGD_ID:155631292
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:1682	congenital heart disease		ISO	RGD:1347443	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17273977
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1347443	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:28492532
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:2717	Bloom syndrome		ISO	RGD:1347443	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Bloom syndrome	PMID:28492532
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:5419	schizophrenia		ISO	RGD:1347443	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:630	genetic disease		ISO	RGD:1347443	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:850	lung disease		ISO	RGD:1347443	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17273977
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:8947	diabetic retinopathy	treatment	ISO	RGD:1332061	D	RGD:9068941	20221103	RGD		associated with type 2 diabetes mellitus	PMID:30096827|REF_RGD_ID:155631301
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:9002049	Anophthalmia		ISO	RGD:1347443	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17273977
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:9002049	Anophthalmia		ISO	RGD:1347443	D	RGD:9068941	20221103	RGD		DNA:frameshift mutation, missense mutations:CDS:multiple (human)	PMID:17273977|REF_RGD_ID:155631287
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:9002642	Isolated Microphthalmia with Coloboma		ISO	RGD:1347443	D	RGD:9068941	20221103	RGD		DNA:missense mutation:CDS:p.G204K (human)	PMID:21901792|REF_RGD_ID:155631284
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:9002682	Cardiovascular Abnormalities		ISO	RGD:1347443	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316031
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1307551	D	RGD:9068941	20221103	RGD		protein:decreased expression:optic cup (rat)	PMID:28734946|REF_RGD_ID:155631297
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:1347443	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18316031
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:9009073	Diaphragmatic Hernia		ISO	RGD:1347443	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17273977
12055287	STRA6	signaling receptor and transporter of retinol STRA6	gene	DOID:9256	colorectal cancer		ISO	RGD:1347443	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Familial colorectal cancer	PMID:28492532
12055330	TASL	TLR adaptor interacting with endolysosomal SLC15A4	gene	DOID:0060799	syndromic X-linked intellectual disability Lubs type		ISO	RGD:1347440	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type	PMID:25741868
12055330	TASL	TLR adaptor interacting with endolysosomal SLC15A4	gene	DOID:0080156	X-linked adrenal hypoplasia congenita		ISO	RGD:1347440	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Congenital adrenal hypoplasia, X-linked	PMID:17504899|PMID:20685758|PMID:21408189|PMID:26980296|PMID:28492532
12055330	TASL	TLR adaptor interacting with endolysosomal SLC15A4	gene	DOID:11723	Duchenne muscular dystrophy		ISO	RGD:1347440	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Duchenne muscular dystrophy	PMID:12632325|PMID:19937601|PMID:22510846|PMID:23453023|PMID:24302611|PMID:24504883|PMID:24770780|PMID:28492532|PMID:31705731
12055330	TASL	TLR adaptor interacting with endolysosomal SLC15A4	gene	DOID:12849	autistic disorder		ISO	RGD:1347440	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
12055330	TASL	TLR adaptor interacting with endolysosomal SLC15A4	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1347440	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12055330	TASL	TLR adaptor interacting with endolysosomal SLC15A4	gene	DOID:9271	ornithine carbamoyltransferase deficiency		ISO	RGD:1347440	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ornithine carbamoyltransferase deficiency	PMID:11793468|PMID:18487280|PMID:19138872|PMID:19475717|PMID:19783189|PMID:22382802|PMID:22494545|PMID:28492532
12055344	GJD3	gap junction protein delta 3	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:1308942	D	RGD:9068941	20200609	RGD		protein:decreased expression:retina:	PMID:23385797|REF_RGD_ID:7364769
12055344	GJD3	gap junction protein delta 3	gene	DOID:9849	Meniere's disease		ISO	RGD:1319005	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Meniere disease	PMID:25741868
12055352	PRR32	proline rich 32	gene	DOID:0060799	syndromic X-linked intellectual disability Lubs type		ISO	RGD:2299192	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type	PMID:25741868
12055352	PRR32	proline rich 32	gene	DOID:0111823	autosomal hemophilia A		ISO	RGD:2299192	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A	PMID:31690835
12055352	PRR32	proline rich 32	gene	DOID:1056	oculocerebrorenal syndrome		ISO	RGD:2299192	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Lowe syndrome	PMID:17142121
12055352	PRR32	proline rich 32	gene	DOID:12134	factor VIII deficiency		ISO	RGD:2299192	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Factor 8 deficiency, congenital	PMID:31690835
12055352	PRR32	proline rich 32	gene	DOID:12849	autistic disorder		ISO	RGD:2299192	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
12055360	OR10S1	olfactory receptor family 10 subfamily S member 1	gene	DOID:0070614	chromosome 11 partial duplication syndrome		ISO	RGD:1349590	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Distal trisomy 11q	PMID:25741868
12055360	OR10S1	olfactory receptor family 10 subfamily S member 1	gene	DOID:0110877	holoprosencephaly 11		ISO	RGD:1349590	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Holoprosencephaly 11	PMID:28492532
12055360	OR10S1	olfactory receptor family 10 subfamily S member 1	gene	DOID:5419	schizophrenia		ISO	RGD:1349590	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
12055360	OR10S1	olfactory receptor family 10 subfamily S member 1	gene	DOID:9007661	Dwarfism		ISO	RGD:1349590	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:32581362
12055364	LOC100688777	Bardet-Biedl syndrome 10	gene	DOID:0110123	Bardet-Biedl syndrome 1		ISO	RGD:1605944	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome 1	PMID:16582908|PMID:17106446|PMID:17980398|PMID:19190184|PMID:20080638|PMID:20120035|PMID:20177705|PMID:20472660|PMID:20498079|PMID:20805367|PMID:20876674|PMID:21044901|PMID:21052717|PMID:21209035|PMID:21344540|PMID:21517826|PMID:21642631|PMID:22410627|PMID:22773737|PMID:23591405|PMID:24033266|PMID:24400638|PMID:24746959|PMID:25366773|PMID:25741868|PMID:25982971|PMID:26467025|PMID:27032803|PMID:27385962|PMID:27449316|PMID:27486776|PMID:28041643|PMID:28492532|PMID:30577886|PMID:30614526|PMID:30718709|PMID:30767287|PMID:31196119|PMID:31964843|PMID:32359821|PMID:32531858|PMID:32686083|PMID:33138063|PMID:33169370|PMID:33302505|PMID:33964006|PMID:34426522|PMID:34940782|PMID:35112343|PMID:35835773|PMID:35886001|PMID:36460718
12055364	LOC100688777	Bardet-Biedl syndrome 10	gene	DOID:0110132	Bardet-Biedl syndrome 10		ISO	RGD:1605944	D	RGD:7240710	20180130	OMIM			
12055364	LOC100688777	Bardet-Biedl syndrome 10	gene	DOID:0110132	Bardet-Biedl syndrome 10		ISO	RGD:1605944	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: BBS10-related condition | ClinVar Annotator: match by term: Bardet-Biedl syndrome 10 | ClinVar Annotator: match by term: Bardet-biedl syndrome 1/10, digenic	PMID:16582908|PMID:16823392|PMID:17106446|PMID:17576681|PMID:17980398|PMID:19190184|PMID:19797195|PMID:20080638|PMID:20120035|PMID:20177705|PMID:20472660|PMID:20498079|PMID:20805367|PMID:20876674|PMID:21044901|PMID:21052717|PMID:21157496|PMID:21209035|PMID:21344540|PMID:21463199|PMID:21517826|PMID:21642631|PMID:22353939|PMID:22410627|PMID:22773737|PMID:22958920|PMID:22995991|PMID:23591405|PMID:24033266|PMID:24041679|PMID:24400638|PMID:24488770|PMID:24611592|PMID:24746959|PMID:25133751|PMID:25170860|PMID:25326635|PMID:25366773|PMID:25412400|PMID:25439097|PMID:25741868|PMID:25966130|PMID:25982971|PMID:25988237|PMID:26003401|PMID:26082521|PMID:26273430|PMID:26467025|PMID:26518167|PMID:27032803|PMID:27245532|PMID:27385962|PMID:27449316|PMID:27486776|PMID:27533158|PMID:27659767|PMID:27788217|PMID:27894351|PMID:27959697|PMID:28041643|PMID:28143435|PMID:28492532|PMID:28808579|PMID:29261186|PMID:29806606|PMID:30335236|PMID:30408610|PMID:30577886|PMID:30614526|PMID:30718709|PMID:30767287|PMID:31196119|PMID:31589614|PMID:31639430|PMID:31964843|PMID:32359821|PMID:32448990|PMID:32531858|PMID:32686083|PMID:32949114|PMID:33138063|PMID:33169370|PMID:33302505|PMID:33964006|PMID:34426522|PMID:34940782|PMID:35112343|PMID:35835773|PMID:35886001|PMID:36312387|PMID:36460718|PMID:9536098
12055364	LOC100688777	Bardet-Biedl syndrome 10	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1605944	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:16582908|PMID:20120035|PMID:20498079|PMID:20805367|PMID:20876674|PMID:21052717|PMID:21209035|PMID:21344540|PMID:21642631|PMID:24400638|PMID:24746959|PMID:25741868|PMID:26467025|PMID:27385962|PMID:28041643|PMID:28492532|PMID:30614526|PMID:30718709|PMID:35112343
12055364	LOC100688777	Bardet-Biedl syndrome 10	gene	DOID:1059	intellectual disability		ISO	RGD:1605944	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: intellectual disabilities	PMID:16582908|PMID:20080638|PMID:20120035|PMID:20177705|PMID:20472660|PMID:20498079|PMID:20876674|PMID:21044901|PMID:21209035|PMID:21517826|PMID:21642631|PMID:22410627|PMID:24746959|PMID:25741868|PMID:25982971|PMID:28492532|PMID:30577886|PMID:30767287|PMID:31964843|PMID:32531858|PMID:32686083|PMID:33138063|PMID:33169370|PMID:34426522|PMID:34940782|PMID:35112343|PMID:35886001
12055364	LOC100688777	Bardet-Biedl syndrome 10	gene	DOID:1935	Bardet-Biedl syndrome		ISO	RGD:1605944	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Bardet-Biedl syndrome	PMID:16582908|PMID:16823392|PMID:17106446|PMID:17576681|PMID:17980398|PMID:19190184|PMID:19797195|PMID:20080638|PMID:20120035|PMID:20177705|PMID:20472660|PMID:20498079|PMID:20805367|PMID:20876674|PMID:21044901|PMID:21052717|PMID:21157496|PMID:21209035|PMID:21344540|PMID:21517826|PMID:21642631|PMID:22353939|PMID:22410627|PMID:22773737|PMID:22958920|PMID:22995991|PMID:23591405|PMID:24033266|PMID:24041679|PMID:24400638|PMID:24488770|PMID:24611592|PMID:24746959|PMID:25133751|PMID:25170860|PMID:25326635|PMID:25366773|PMID:25412400|PMID:25439097|PMID:25741868|PMID:25966130|PMID:25982971|PMID:26003401|PMID:26273430|PMID:26355662|PMID:26467025|PMID:26518167|PMID:27032803|PMID:27245532|PMID:27385962|PMID:27449316|PMID:2748677|PMID:27486776|PMID:27533158|PMID:27659767|PMID:27788217|PMID:27894351|PMID:27959697|PMID:28041643|PMID:28143435|PMID:28492532|PMID:28808579|PMID:28991257|PMID:29261186|PMID:29666954|PMID:29806606|PMID:29947050|PMID:30335236|PMID:30577886|PMID:30614526|PMID:30718709|PMID:30767287|PMID:31196119|PMID:31589614|PMID:31639430|PMID:31816670|PMID:31964843|PMID:32359821|PMID:32361989|PMID:32448990|PMID:32531858|PMID:32686083|PMID:32949114|PMID:33138063|PMID:33169370|PMID:33302505|PMID:33964006|PMID:34426522|PMID:34940782|PMID:35112343|PMID:35835773|PMID:35886001|PMID:36312387|PMID:36460718|PMID:36648511|PMID:5982971|PMID:9536098
12055364	LOC100688777	Bardet-Biedl syndrome 10	gene	DOID:4448	macular degeneration		ISO	RGD:1605944	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Macular degeneration	PMID:16582908|PMID:20080638|PMID:20120035|PMID:20177705|PMID:20472660|PMID:20498079|PMID:20876674|PMID:21044901|PMID:21209035|PMID:21517826|PMID:21642631|PMID:22410627|PMID:24746959|PMID:25741868|PMID:25982971|PMID:28492532|PMID:30577886|PMID:30767287|PMID:31964843|PMID:32531858|PMID:32686083|PMID:33138063|PMID:33169370|PMID:34426522|PMID:34940782|PMID:35112343|PMID:35886001
12055364	LOC100688777	Bardet-Biedl syndrome 10	gene	DOID:5723	optic atrophy		ISO	RGD:1605944	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Optic atrophy	PMID:25741868
12055364	LOC100688777	Bardet-Biedl syndrome 10	gene	DOID:630	genetic disease		ISO	RGD:1605944	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:12083524|PMID:16582908|PMID:17576681|PMID:20080638|PMID:20120035|PMID:20177705|PMID:20472660|PMID:20498079|PMID:20805367|PMID:20876674|PMID:21044901|PMID:21052717|PMID:21209035|PMID:21344540|PMID:21517826|PMID:21642631|PMID:22410627|PMID:24400638|PMID:24746959|PMID:25741868|PMID:25982971|PMID:26467025|PMID:27385962|PMID:28041643|PMID:28492532|PMID:30335236|PMID:30577886|PMID:30614526|PMID:30718709|PMID:30767287|PMID:31964843|PMID:32531858|PMID:32686083|PMID:33138063|PMID:33169370|PMID:34426522|PMID:34940782|PMID:35112343|PMID:35886001|PMID:8861908|PMID:9536098
12055364	LOC100688777	Bardet-Biedl syndrome 10	gene	DOID:8501	fundus dystrophy		ISO	RGD:1605944	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:16582908|PMID:16823392|PMID:17980398|PMID:19190184|PMID:20080638|PMID:20120035|PMID:20177705|PMID:20472660|PMID:20498079|PMID:20805367|PMID:20876674|PMID:21044901|PMID:21052717|PMID:21157496|PMID:21209035|PMID:21344540|PMID:21517826|PMID:21642631|PMID:22410627|PMID:22773737|PMID:24033266|PMID:24400638|PMID:24746959|PMID:25366773|PMID:25741868|PMID:25982971|PMID:26003401|PMID:26467025|PMID:26518167|PMID:27032803|PMID:27385962|PMID:27486776|PMID:27659767|PMID:27788217|PMID:28041643|PMID:28143435|PMID:28492532|PMID:28808579|PMID:30577886|PMID:30614526|PMID:30718709|PMID:30767287|PMID:31589614|PMID:31964843|PMID:32359821|PMID:32531858|PMID:32686083|PMID:32949114|PMID:33138063|PMID:33169370|PMID:33302505|PMID:33964006|PMID:34426522|PMID:34940782|PMID:35112343|PMID:35835773|PMID:35886001|PMID:36460718
12055364	LOC100688777	Bardet-Biedl syndrome 10	gene	DOID:9001069	Bardet-Biedl Syndrome 6/10, Digenic		ISO	RGD:1605944	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Bardet-biedl syndrome 6/10, digenic	PMID:16582908|PMID:20120035|PMID:20805367|PMID:20876674|PMID:21052717|PMID:21209035|PMID:21344540|PMID:21642631|PMID:24400638|PMID:24746959|PMID:25741868|PMID:26467025|PMID:27385962|PMID:28041643|PMID:28492532|PMID:30614526|PMID:30718709
12055418	SDR42E2	short chain dehydrogenase/reductase family 42E, member 2	gene	DOID:0060399	chromosome 16p12.1 deletion syndrome		ISO	RGD:5688458	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Chromosome 16p12.1 deletion syndrome, 520kb	PMID:25741868
12055418	SDR42E2	short chain dehydrogenase/reductase family 42E, member 2	gene	DOID:12849	autistic disorder		ISO	RGD:5688458	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
12055418	SDR42E2	short chain dehydrogenase/reductase family 42E, member 2	gene	DOID:5419	schizophrenia		ISO	RGD:5688458	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
12055432	MIR34B	microRNA mir-34b	gene	DOID:0070614	chromosome 11 partial duplication syndrome		ISO	RGD:1352034	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Distal trisomy 11q	PMID:25741868
12055432	MIR34B	microRNA mir-34b	gene	DOID:0080533	Carney-Stratakis syndrome		ISO	RGD:1352034	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Carney-Stratakis syndrome	PMID:15531530|PMID:19351833|PMID:19454582|PMID:19802898|PMID:22241717|PMID:28492532
12055432	MIR34B	microRNA mir-34b	gene	DOID:0090106	BH4-deficient hyperphenylalaninemia A		ISO	RGD:1352034	D	RGD:8554872	20230314	ClinVar		ClinVar Annotator: match by term: BH4-deficient hyperphenylalaninemia A	PMID:28492532
12055432	MIR34B	microRNA mir-34b	gene	DOID:1059	intellectual disability		ISO	RGD:1352034	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12055432	MIR34B	microRNA mir-34b	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1352034	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30026881
12055432	MIR34B	microRNA mir-34b	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1352034	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome	PMID:23807571|PMID:25614872|PMID:28492532
12055432	MIR34B	microRNA mir-34b	gene	DOID:14330	Parkinson's disease		ISO	RGD:1352034	D	RGD:9068941	20200609	RGD			PMID:21558425|REF_RGD_ID:10755477
12055432	MIR34B	microRNA mir-34b	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:1352034	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30026881
12055432	MIR34B	microRNA mir-34b	gene	DOID:9000918	Disease Progression		ISO	RGD:1352034	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30026881
12055432	MIR34B	microRNA mir-34b	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:1352034	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19487542
12055432	MIR34B	microRNA mir-34b	gene	DOID:9002170	Experimental Neoplasms		ISO	RGD:1352034	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:22113133
12055432	MIR34B	microRNA mir-34b	gene	DOID:9005172	Lung Neoplasms		ISO	RGD:1352034	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21339737|PMID:25105010
12055432	MIR34B	microRNA mir-34b	gene	DOID:9007608	Neoplastic Cell Transformation		ISO	RGD:1352034	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21339737
12055432	MIR34B	microRNA mir-34b	gene	DOID:9007787	Carcinoid Tumor		ISO	RGD:1352034	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25105010
12055432	MIR34B	microRNA mir-34b	gene	DOID:9008243	Pyruvate Dehydrogenase E2 Deficiency		ISO	RGD:1352034	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency	PMID:28492532
12055435	MIR496	microRNA mir-496	gene	DOID:0111712	Kagami-Ogata syndrome		ISO	RGD:1603768	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Paternal uniparental disomy 14	PMID:18176563
12055435	MIR496	microRNA mir-496	gene	DOID:3969	papillary thyroid carcinoma		ISO	RGD:1603768	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28030816
12055543	CD38	CD38 molecule	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:735841	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis	PMID:28492532
12055543	CD38	CD38 molecule	gene	DOID:9001542	Albuminuria		ISO	RGD:735841	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21992601
12055543	CD38	CD38 molecule	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:2303	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:liver	PMID:16343077|REF_RGD_ID:2307239
12055543	CD38	CD38 molecule	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:735841	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12055543	CD38	CD38 molecule	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:2303	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:19073639|REF_RGD_ID:2307227
12055543	CD38	CD38 molecule	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:735841	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus	PMID:19300526|REF_RGD_ID:2307228
12055543	CD38	CD38 molecule	gene	DOID:9003936	Cardiomegaly		ISO	RGD:2303	D	RGD:9068941	20200609	RGD			PMID:18719074|REF_RGD_ID:2307236
12055543	CD38	CD38 molecule	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:2303	D	RGD:9068941	20200609	RGD		protein:increased activity:ventricle myocardium	PMID:12111041|REF_RGD_ID:2307243
12055543	CD38	CD38 molecule	gene	DOID:9007102	Myocardial Ischemia		ISO	RGD:735841	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16214533
12055543	CD38	CD38 molecule	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:2303	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:pancreatic islet	PMID:7669044|REF_RGD_ID:2307234
12055543	CD38	CD38 molecule	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:735841	D	RGD:9068941	20200609	RGD			PMID:12242463|REF_RGD_ID:2307232
12055543	CD38	CD38 molecule	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:735841	D	RGD:9068941	20200609	RGD		DNA:missense mutation: :p.R140W (human)	PMID:9754820|REF_RGD_ID:2307233
12055543	CD38	CD38 molecule	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:731646	D	RGD:9068941	20200609	RGD			PMID:16920929|REF_RGD_ID:2307229
12055543	CD38	CD38 molecule	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:731646	D	RGD:9068941	20220825	MouseDO		OMIM:222100	
12055543	CD38	CD38 molecule	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:735841	D	RGD:9068941	20200609	RGD			PMID:16459468|REF_RGD_ID:2307230
12055543	CD38	CD38 molecule	gene	DOID:9744	type 1 diabetes mellitus	disease_progression	ISO	RGD:735841	D	RGD:9068941	20200609	RGD			PMID:12488956|REF_RGD_ID:2307231
12055566	ETAA1	ETAA1 activator of ATR kinase	gene	DOID:1793	pancreatic cancer		ISO	RGD:1604009	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26098869
12055582	PPM1G	protein phosphatase, Mg2+/Mn2+ dependent 1G	gene	DOID:0112339	Tatton-Brown-Rahman syndrome		ISO	RGD:732734	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Tatton-Brown-Rahman overgrowth syndrome	PMID:28492532
12055582	PPM1G	protein phosphatase, Mg2+/Mn2+ dependent 1G	gene	DOID:5419	schizophrenia		ISO	RGD:732735	D	RGD:9068941	20220825	MouseDO		OMIM:181500	
12055600	HDLBP	high density lipoprotein binding protein	gene	DOID:0080600	COVID-19		ISO	RGD:732166	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12055600	HDLBP	high density lipoprotein binding protein	gene	DOID:0110781	hereditary spastic paraplegia 30		ISO	RGD:732166	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 30	PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895
12055600	HDLBP	high density lipoprotein binding protein	gene	DOID:0111351	D-2-hydroxyglutaric aciduria 1		ISO	RGD:732166	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: D-2-hydroxyglutaric aciduria 1	PMID:16081310|PMID:20020533|PMID:20691407|PMID:21384162|PMID:21820098|PMID:24715439|PMID:28492532|PMID:30848064|PMID:31488895
12055600	HDLBP	high density lipoprotein binding protein	gene	DOID:0111704	chromosome 2q37 deletion syndrome		ISO	RGD:732166	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Chromosome 2q37 deletion syndrome	PMID:25741868
12055600	HDLBP	high density lipoprotein binding protein	gene	DOID:1059	intellectual disability		ISO	RGD:732166	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12055600	HDLBP	high density lipoprotein binding protein	gene	DOID:12849	autistic disorder		ISO	RGD:732166	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19365831
12055600	HDLBP	high density lipoprotein binding protein	gene	DOID:9000793	Fine-Lubinsky Syndrome		ISO	RGD:732166	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Fine-Lubinsky syndrome	PMID:25741868
12055600	HDLBP	high density lipoprotein binding protein	gene	DOID:9001550	Bethlem Myopathy 1A		ISO	RGD:732166	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Bethlem myopathy 1A	PMID:26004199|PMID:28492532
12055600	HDLBP	high density lipoprotein binding protein	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:732166	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
12055600	HDLBP	high density lipoprotein binding protein	gene	DOID:9008192	Neoplastic Processes		ISO	RGD:732166	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25129143
12055638	ARMC3	armadillo repeat containing 3	gene	DOID:9008973	Familial Persistent Stuttering 4		ISO	RGD:1312695	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Stuttering, familial persistent, 4	
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050657	Bannayan-Riley-Ruvalcaba syndrome		ISO	RGD:1318463	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Cowden syndrome 1	PMID:19802898|PMID:20923864|PMID:21979946|PMID:23072324|PMID:23512077|PMID:25694510|PMID:25741868|PMID:26467025|PMID:28492532|PMID:30152102
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050771	pheochromocytoma		ISO	RGD:1318463	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma | ClinVar Annotator: match by term: Pheochromocytoma, susceptibility to	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27896548|PMID:28070496|PMID:28152038|PMID:28229225|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30487145|PMID:30694796|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:34052969|PMID:34072806|PMID:34309460|PMID:34439168|PMID:34906457|PMID:34939938|PMID:490809|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050771	pheochromocytoma		ISO	RGD:1318463	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma | ClinVar Annotator: match by term: Pheochromocytoma, susceptibility to	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22677546|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27867439|PMID:27896548|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28229225|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30487145|PMID:30694796|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:33628464|PMID:34052969|PMID:34072806|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35460558|PMID:36200007|PMID:490809|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050771	pheochromocytoma		ISO	RGD:1318463	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16304664|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24623741|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27896548|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28409892|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29192238|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30658386|PMID:30694796|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32661476|PMID:32688340|PMID:32741965|PMID:32859697
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050771	pheochromocytoma		ISO	RGD:1318463	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma	PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:33777662|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34466344|PMID:34490615|PMID:34654328|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35127314|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35870552|PMID:35904169|PMID:36200007|PMID:36288950|PMID:36387130|PMID:36597280|PMID:36786389|PMID:490809|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050773	paraganglioma		ISO	RGD:1318463	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12205103|PMID:12213855|PMID:12351569|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14643060|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15883710|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16001332|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30201732|PMID:30352407|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32741965|PMID:32863293|PMID:33300499|PMID:33397040|PMID:33558524|PMID:34906457|PMID:490809|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050773	paraganglioma		ISO	RGD:1318463	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26370861|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33397040|PMID:33558524|PMID:34052969|PMID:34439168|PMID:34906457|PMID:490809|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050773	paraganglioma		ISO	RGD:1318463	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22677546|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25405498|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26370861|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27867439|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30487145|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:33628464|PMID:33748650|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34466344|PMID:34490615|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35870552|PMID:36200007|PMID:490809|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050773	paraganglioma		ISO	RGD:1318463	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant	PMID:33219105|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34466344|PMID:34490615|PMID:34654328|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35870552|PMID:35904169|PMID:36200007|PMID:36387130|PMID:36786389|PMID:490809|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050773	paraganglioma		ISO	RGD:1318463	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24623741|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26370861|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28409892|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29192238|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30658386|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32688340|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050773	paraganglioma		ISO	RGD:1318463	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant | ClinVar Annotator: match by term: Paragangliomata	PMID:33219105|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34466344|PMID:34490615|PMID:34654328|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35870552|PMID:35904169|PMID:36200007|PMID:36387130|PMID:36786389|PMID:490809|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050773	paraganglioma		ISO	RGD:1318463	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24623741|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26370861|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28409892|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29192238|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30658386|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32661476|PMID:32688340|PMID:32741965|PMID:32859697|PMID:32863293
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0050773	paraganglioma		ISO	RGD:1318463	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Paragangliomas and Pheochromocytomas | ClinVar Annotator: match by term: Paraganglioma | ClinVar Annotator: match by term: Paraganglioma, familial malignant	PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34466344|PMID:34490615|PMID:34654328|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35127314|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35870552|PMID:35904169|PMID:36200007|PMID:36387130|PMID:36597280|PMID:36786389|PMID:490809|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0060410	chromosome 1p36 deletion syndrome		ISO	RGD:1318463	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome	
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0060537	mitochondrial complex II deficiency		ISO	RGD:1318463	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex II deficiency	PMID:17634472|PMID:22972948|PMID:25741868|PMID:26642834|PMID:26925370|PMID:27159321|PMID:27604842|PMID:28492532|PMID:34052969
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0080533	Carney-Stratakis syndrome		ISO	RGD:1318463	D	RGD:7240710	20180130	OMIM			
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:0080533	Carney-Stratakis syndrome		ISO	RGD:1318463	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Carney-Stratakis syndrome | ClinVar Annotator: match by term: Paraganglioma and gastrointestinal stromal tumor	PMID:11404820|PMID:11897817|PMID:12362046|PMID:12364472|PMID:12618761|PMID:14500403|PMID:14715873|PMID:14985401|PMID:15328326|PMID:15383933|PMID:16199547|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:17102082|PMID:17102083|PMID:17200167|PMID:17298551|PMID:17376234|PMID:17487275|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17943698|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18840642|PMID:19215943|PMID:19258401|PMID:19351833|PMID:19368708|PMID:19399650|PMID:19411806|PMID:19454582|PMID:19576851|PMID:19694205|PMID:19802898|PMID:19825962|PMID:20208144|PMID:20418362|PMID:20459544|PMID:20540712|PMID:20592014|PMID:20614293|PMID:20923864|PMID:21348866|PMID:21565294|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22270996|PMID:22517554|PMID:22677546|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22995991|PMID:23072324|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23512077|PMID:23660872|PMID:23666964|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24466223|PMID:24509376|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24939699|PMID:25047027|PMID:25326637|PMID:25333069|PMID:25637381|PMID:25694510|PMID:25695889|PMID:25741868|PMID:25972245|PMID:26092435|PMID:26259135|PMID:26269449|PMID:26283294|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26719882|PMID:27011036|PMID:27171833|PMID:27539324|PMID:27573198|PMID:27604842|PMID:28070496|PMID:28324028|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28819017|PMID:28873162|PMID:29386252|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30152102|PMID:30201732|PMID:30877234|PMID:31365623|PMID:31492822|PMID:31666924|PMID:32460727|PMID:32741965|PMID:32859697|PMID:32963463|PMID:33300499|PMID:33362715|PMID:34118692|PMID:34439168|PMID:34439371|PMID:34466344|PMID:34654328|PMID:34906457|PMID:35441217|PMID:9509062
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:14175	von Hippel-Lindau disease		ISO	RGD:1318463	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Von Hippel-Lindau syndrome	PMID:11404820|PMID:12618761|PMID:16314641|PMID:16317055|PMID:18419787|PMID:19454582|PMID:19802898|PMID:21348866|PMID:21909610|PMID:21934479|PMID:23083876|PMID:24033266|PMID:24466223|PMID:25326637|PMID:25741868|PMID:25972245|PMID:26467025|PMID:27171833|PMID:27573198|PMID:28324028|PMID:28374168|PMID:28492532|PMID:29386252|PMID:31666924|PMID:9509062
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:1612	breast cancer		ISO	RGD:1318463	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Malignant tumor of breast	PMID:14985401|PMID:16322339|PMID:16912137|PMID:17102082|PMID:17102083|PMID:17298551|PMID:17639058|PMID:18551016|PMID:18678321|PMID:19368708|PMID:19399650|PMID:19802898|PMID:21979946|PMID:22703879|PMID:22995991|PMID:23666964|PMID:24728327|PMID:25333069|PMID:25694510|PMID:25741868|PMID:26092435|PMID:28492532
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:2394	ovarian cancer		ISO	RGD:1318463	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:23780556|PMID:25741868|PMID:28492532
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:4450	renal cell carcinoma		ISO	RGD:1318463	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Renal adenocarcinoma | ClinVar Annotator: match by term: Renal cell carcinoma	PMID:18728283|PMID:19576851|PMID:22835832|PMID:24055113|PMID:24092654|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26467025|PMID:28374168|PMID:28492532|PMID:30050099|PMID:34906457
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:6457	Cowden syndrome		ISO	RGD:1318463	D	RGD:8554872	20240514	ClinVar		ClinVar Annotator: match by term: Cowden syndrome | ClinVar Annotator: match by term: Cowden's syndrome	PMID:14985401|PMID:16322339|PMID:16912137|PMID:17102082|PMID:17102083|PMID:17298551|PMID:17376234|PMID:17639058|PMID:18551016|PMID:18678321|PMID:19368708|PMID:19399650|PMID:19802898|PMID:21979946|PMID:22703879|PMID:22995991|PMID:23666964|PMID:24033266|PMID:24728327|PMID:25333069|PMID:25694510|PMID:25741868|PMID:26092435|PMID:26729832|PMID:27604842|PMID:28229225|PMID:28492532|PMID:31104306|PMID:34309460|PMID:34490615|PMID:34906457
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:6741	bilateral breast cancer		ISO	RGD:1318463	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: bilateral breast cancer	PMID:17102082|PMID:19351833|PMID:20208144|PMID:21520333|PMID:23175444|PMID:25741868|PMID:26102504|PMID:26269449|PMID:28492532|PMID:31216007|PMID:33558524|PMID:34906457
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:7400	Nijmegen breakage syndrome		ISO	RGD:1318463	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Ataxia telangiectasia variant V1	PMID:15987702|PMID:16288654|PMID:16317055|PMID:16912137|PMID:16916404|PMID:17200167|PMID:17667967|PMID:17884808|PMID:19001511|PMID:19215943|PMID:19802898|PMID:21820839|PMID:23282968|PMID:24033266|PMID:25371406|PMID:25677497|PMID:25683602|PMID:25741868|PMID:25972245|PMID:26173966|PMID:26467025|PMID:26916530|PMID:28070496|PMID:28152038|PMID:28349240|PMID:28374168|PMID:28492532|PMID:28738844|PMID:28873162|PMID:29386252
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9002162	Carotid Body Tumor		ISO	RGD:1318463	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Carotid body tumor	PMID:18728283|PMID:19576851|PMID:22835832|PMID:24055113|PMID:24092654|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26467025|PMID:28374168|PMID:28492532|PMID:30050099|PMID:34906457
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9002265	Kidney Neoplasms		ISO	RGD:1318463	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Renal neoplasm	PMID:19261679|PMID:22241717|PMID:25720320|PMID:25741868|PMID:28179334|PMID:28492532|PMID:30050099
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9003055	Mitochondrial Complex II Deficiency Nuclear Type 1		ISO	RGD:1318463	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Mitochondrial complex II deficiency, nuclear type 1	PMID:17634472|PMID:22972948|PMID:25741868|PMID:26642834|PMID:26925370|PMID:27159321|PMID:27604842|PMID:28492532|PMID:34052969
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9003626	Paragangliomas 3		ISO	RGD:1318463	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23666964|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25677497|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32124427|PMID:32741965|PMID:32863293|PMID:33300499|PMID:33397040|PMID:33558524|PMID:34906457|PMID:490809|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9003626	Paragangliomas 3		ISO	RGD:1318463	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Paragangliomas 3 | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23666964|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:28070496|PMID:28152038|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33397040|PMID:33558524|PMID:34052969|PMID:34439168|PMID:34906457|PMID:490809|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9003626	Paragangliomas 3		ISO	RGD:1318463	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Paragangliomas, hereditary extraadrenal | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21820839|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22270996|PMID:22429592|PMID:22517554|PMID:22517557|PMID:22677546|PMID:22703879|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25494863|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27867439|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30352407|PMID:30487145|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31883676|PMID:32023584|PMID:32124427|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:33628464|PMID:34052969|PMID:34072806|PMID:34377882|PMID:34439168|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35460558|PMID:36200007|PMID:490809|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9003626	Paragangliomas 3		ISO	RGD:1318463	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Glomus tumors, familial, 3 | ClinVar Annotator: match by term: Paragangliomas, hereditary extraadrenal | ClinVar Annotator: match by term: Pheochromocytoma, extraadrenal and cervical paraganglioma | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal	PMID:33391357|PMID:33397040|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34466344|PMID:34490615|PMID:34654328|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35870552|PMID:35904169|PMID:36200007|PMID:36387130|PMID:36786389|PMID:490809|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9003626	Paragangliomas 3		ISO	RGD:1318463	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Paragangliomas, hereditary extraadrenal | ClinVar Annotator: match by term: Pheochromocytoma, extraadrenal and cervical paraganglioma | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24623741|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28409892|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29192238|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30658386|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32688340|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9003626	Paragangliomas 3		ISO	RGD:1318463	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Paragangliomas, hereditary extraadrenal | ClinVar Annotator: match by term: Pheochromocytoma, extraadrenal and cervical paraganglioma | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal	PMID:33391357|PMID:33397040|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34466344|PMID:34490615|PMID:34654328|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35870552|PMID:35904169|PMID:36200007|PMID:36387130|PMID:36786389|PMID:490809|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9003626	Paragangliomas 3		ISO	RGD:1318463	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Paragangliomas, hereditary extraadrenal | ClinVar Annotator: match by term: Pheochromocytoma, extraadrenal and cervical paraganglioma | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24623741|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28409892|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29192238|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30658386|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32661476|PMID:32688340|PMID:32741965|PMID:32859697|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9003626	Paragangliomas 3		ISO	RGD:1318463	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Paragangliomas, hereditary extraadrenal | ClinVar Annotator: match by term: Pheochromocytoma, extraadrenal and cervical paraganglioma | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal	PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34466344|PMID:34490615|PMID:34654328|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35127314|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35870552|PMID:35904169|PMID:36200007|PMID:36387130|PMID:36597280|PMID:36786389|PMID:490809|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9004224	Mitochondrial Complex II Deficiency Nuclear Type 4		ISO	RGD:1318463	D	RGD:7240710	20210324	OMIM			
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9004224	Mitochondrial Complex II Deficiency Nuclear Type 4		ISO	RGD:1318463	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4	PMID:11897817|PMID:12000816|PMID:12213855|PMID:14500403|PMID:15235042|PMID:15328326|PMID:16314641|PMID:16317055|PMID:16912137|PMID:17102084|PMID:17200167|PMID:17634472|PMID:17652212|PMID:17848412|PMID:18382370|PMID:18551016|PMID:18678321|PMID:18728283|PMID:19075037|PMID:19215943|PMID:19258401|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19454582|PMID:19576851|PMID:20208144|PMID:20592014|PMID:20614293|PMID:21173220|PMID:22270996|PMID:22293219|PMID:22517554|PMID:22703879|PMID:22835832|PMID:22972948|PMID:23083876|PMID:23175444|PMID:23666964|PMID:23902947|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24276837|PMID:24509376|PMID:24728327|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25637381|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25873086|PMID:25972245|PMID:26259135|PMID:26332594|PMID:26467025|PMID:26642834|PMID:26925370|PMID:27159321|PMID:27539324|PMID:27604842|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28738844|PMID:29386252|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30877234|PMID:31365623|PMID:31666924|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32661476|PMID:32741965|PMID:32859697|PMID:33362715|PMID:33748650|PMID:34052969|PMID:34069252|PMID:34439168|PMID:34439371|PMID:34466344|PMID:34490615|PMID:34750850|PMID:34906457|PMID:35546442|PMID:36200007|PMID:36597280
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9004478	Islet Cell Tumor Syndrome		ISO	RGD:1318463	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Chromaffinoma	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24623741|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28409892|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29192238|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30658386|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32661476|PMID:32688340|PMID:32741965|PMID:32859697|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9004478	Islet Cell Tumor Syndrome		ISO	RGD:1318463	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Chromaffinoma	PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34466344|PMID:34490615|PMID:34654328|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35127314|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35870552|PMID:35904169|PMID:36200007|PMID:36387130|PMID:36597280|PMID:36786389|PMID:490809|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9005607	Hereditary Paraganglioma-Pheochromocytoma Syndromes		ISO	RGD:1318463	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23640968|PMID:23666964|PMID:23735539|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24623741|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26370861|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28409892|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29192238|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30201732|PMID:30352407|PMID:30536464|PMID:30658386|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32661476|PMID:32688340|PMID:32741965|PMID:32859697|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9005607	Hereditary Paraganglioma-Pheochromocytoma Syndromes		ISO	RGD:1318463	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Paraganglioma-Pheochromocytoma Syndromes	PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34466344|PMID:34654328|PMID:34750850|PMID:34906457|PMID:34939938|PMID:35060925|PMID:35127314|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35870552|PMID:35904169|PMID:36200007|PMID:36387130|PMID:36597280|PMID:36786389|PMID:490809|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9006972	Renal Cell Carcinoma 1		ISO	RGD:1318463	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Renal cell carcinoma 1	PMID:18728283|PMID:19576851|PMID:22835832|PMID:24055113|PMID:24092654|PMID:25637381|PMID:25741868|PMID:26332594|PMID:26467025|PMID:28374168|PMID:28492532|PMID:30050099|PMID:34906457
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12205103|PMID:12213855|PMID:12351569|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14643060|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15883710|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16001332|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23407919|PMID:23512077|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23707781|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25825477|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30549360|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32124427|PMID:32659967|PMID:32741965|PMID:33300499|PMID:33558524|PMID:34906457|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23407919|PMID:23512077|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23707781|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25825477|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30549360|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32124427|PMID:32659967|PMID:32741965|PMID:33300499|PMID:33558524|PMID:34906457|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23407919|PMID:23512077|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23707781|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25677497|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25825477|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30549360|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32124427|PMID:32659967|PMID:32741965|PMID:33300499|PMID:33558524|PMID:34906457|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23407919|PMID:23512077|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23707781|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25825477|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30549360|PMID:30877234|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32124427|PMID:32659967|PMID:32741965|PMID:33300499|PMID:33558524|PMID:34309460|PMID:34906457|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30549360|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33558524|PMID:34052969|PMID:34309460|PMID:34439168|PMID:34452955|PMID:34906457
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:35171114|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261994|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20614293|PMID:20702724|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30549360|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:33300499|PMID:33362715|PMID:33558524|PMID:34052969|PMID:34309460|PMID:34439168|PMID:34452955
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:34906457|PMID:35171114|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:34052969|PMID:34072806|PMID:34255389|PMID:34309460|PMID:34439168|PMID:34452955|PMID:34906457|PMID:34939938|PMID:35171114|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:32971818|PMID:33300499|PMID:33362715|PMID:33558524|PMID:33628464|PMID:34052969|PMID:34072806|PMID:34255389|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34452955|PMID:34906457|PMID:34939938|PMID:35060925|PMID:35171114|PMID:36200007|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:1523504|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:163114641|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261679|PMID:19261994|PMID:19341833|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20702724|PMID:20890271|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30549360|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32659967
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33300499|PMID:33362715|PMID:33558524|PMID:33628464|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34452955|PMID:34466344|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:36200007|PMID:37529773|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16103922|PMID:16199547|PMID:16288654|PMID:16304664|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261679|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20702724|PMID:20890271|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29386252|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30549360|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome	PMID:32688340|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33300499|PMID:33362715|PMID:33558524|PMID:33628464|PMID:33748650|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34466344|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35870552|PMID:36200007|PMID:37529773|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16304664|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261679|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20702724|PMID:20890271|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21270786|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21686655|PMID:21716271|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23698643|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24623741|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25974703|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26729832|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28409892|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28960644|PMID:28973655|PMID:29192238|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30549360|PMID:30658386|PMID:30877234
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32688340|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34466344|PMID:34654328|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35870552|PMID:35904169|PMID:36200007|PMID:36387130|PMID:36786389|PMID:37529773|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16304664|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261679|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20702724|PMID:20890271|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24623741|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26729832|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28409892|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28650885|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28960644|PMID:28973655|PMID:29192238|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30549360|PMID:30658386|PMID:30877234|PMID:31104306|PMID:31194233|PMID:31212687
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31216007|PMID:31308404|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32688340|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:33777662|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34466344|PMID:34490615|PMID:34654328|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35870552|PMID:35904169|PMID:36200007|PMID:36288950|PMID:36387130|PMID:36654613|PMID:36786389|PMID:37529773|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1318463	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome | ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome | ClinVar Annotator: match by term: Hereditary neoplastic syndrome | ClinVar Annotator: match by term: Neoplastic Syndromes, Hereditary	PMID:31216007|PMID:31308404|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32661476|PMID:32688340|PMID:32741965|PMID:32859697|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:33777662|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34466344|PMID:34490615|PMID:34654328|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35127314|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35870552|PMID:35904169|PMID:36200007|PMID:36288950|PMID:36387130|PMID:36597280|PMID:36654613|PMID:36786389|PMID:37529773|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9007167	Carney Triad		ISO	RGD:1318463	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: GASTRIC LEIOMYOSARCOMA, PULMONARY CHONDROMA, AND EXTRAADRENAL PARAGANGLIOMA	PMID:15987702|PMID:16288654|PMID:16317055|PMID:16912137|PMID:16916404|PMID:17200167|PMID:17667967|PMID:17884808|PMID:19001511|PMID:19215943|PMID:19802898|PMID:21820839|PMID:23282968|PMID:24033266|PMID:24623741|PMID:25371406|PMID:25683602|PMID:25741868|PMID:25972245|PMID:26173966|PMID:26467025|PMID:26916530|PMID:28070496|PMID:28152038|PMID:28349240|PMID:28374168|PMID:28492532|PMID:28738844|PMID:28873162|PMID:29386252|PMID:30050099|PMID:30201732|PMID:31308404
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9008037	Paragangliomas 4		ISO	RGD:1318463	D	RGD:7240710	20180130	OMIM			
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9008037	Paragangliomas 4		ISO	RGD:1318463	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 4 | ClinVar Annotator: match by term: Paragangliomas 4 | ClinVar Annotator: match by term: Paragangliomas, hereditary extraadrenal | ClinVar Annotator: match by term: Pheochromocytoma, extraadrenal and cervical paraganglioma | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15476441|PMID:15531530|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16304664|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18057081|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19215943|PMID:19258401|PMID:19261679|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20702724|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22573489|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23780556|PMID:23797725|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24623741|PMID:24659481|PMID:24728327|PMID:24781345|PMID:24939699|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25827221|PMID:25873086|PMID:25972245|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28409892|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28973655|PMID:29192238|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630|PMID:30050099|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30658386|PMID:30877234|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9008037	Paragangliomas 4		ISO	RGD:1318463	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: PHEOCHROMOCYTOMA/PARAGANGLIOMA SYNDROME 4 | ClinVar Annotator: match by term: Paragangliomas 4 | ClinVar Annotator: match by term: Paragangliomas, hereditary extraadrenal | ClinVar Annotator: match by term: Pheochromocytoma, extraadrenal and cervical paraganglioma | ClinVar Annotator: match by term: Pheochromocytoma, familial extraadrenal	PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32661476|PMID:32688340|PMID:32741965|PMID:32859697|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34466344|PMID:34490615|PMID:34654328|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35127314|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35870552|PMID:35904169|PMID:36200007|PMID:36387130|PMID:36597280|PMID:36786389|PMID:37529773|PMID:490809|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1318463	D	RGD:7240710	20180130	OMIM			
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1318463	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic	PMID:30487145|PMID:30549360|PMID:30694796|PMID:30877234|PMID:31046099|PMID:31104306|PMID:31194233|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:33628464|PMID:34052969|PMID:34072806|PMID:34255389|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34452955|PMID:34906457|PMID:34939938|PMID:35060925|PMID:35171114|PMID:36200007|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1318463	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic	PMID:30487145|PMID:30549360|PMID:30694796|PMID:30877234|PMID:31046099|PMID:31104306|PMID:31194233|PMID:31216007|PMID:31492822|PMID:31666924|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32659967|PMID:32741965|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33397040|PMID:33558524|PMID:33628464|PMID:34052969|PMID:34072806|PMID:34255389|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34452955|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35171114|PMID:35460558|PMID:36200007|PMID:37529773|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1318463	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic	PMID:11404820|PMID:11897817|PMID:12000816|PMID:12213855|PMID:12362046|PMID:12364472|PMID:12560550|PMID:12618761|PMID:12807974|PMID:13129931|PMID:14500403|PMID:14685938|PMID:14715873|PMID:14974914|PMID:14985401|PMID:15235042|PMID:15328326|PMID:15473885|PMID:15476441|PMID:15531530|PMID:15987702|PMID:15988378|PMID:15989954|PMID:16080530|PMID:16103922|PMID:16199547|PMID:16258955|PMID:16288654|PMID:16304664|PMID:16314641|PMID:16317055|PMID:16322339|PMID:16405730|PMID:16472267|PMID:16912137|PMID:16916404|PMID:16982587|PMID:17102082|PMID:17102083|PMID:17102084|PMID:17102086|PMID:17143317|PMID:17200167|PMID:17298551|PMID:17308434|PMID:17376234|PMID:17487275|PMID:17538171|PMID:17576681|PMID:17634472|PMID:17639058|PMID:17652212|PMID:17667967|PMID:17804857|PMID:17848412|PMID:17884808|PMID:17943698|PMID:17987308|PMID:18057081|PMID:18362451|PMID:18382370|PMID:18419787|PMID:18519664|PMID:18551016|PMID:18678321|PMID:18728283|PMID:18753105|PMID:18840642|PMID:19001511|PMID:19029228|PMID:19064958|PMID:19075037|PMID:19184535|PMID:19189136|PMID:19208735|PMID:19215943|PMID:19258401|PMID:19261679|PMID:19261994|PMID:19351833|PMID:19368708|PMID:19389109|PMID:19393419|PMID:19399650|PMID:19411806|PMID:19415531|PMID:19454582|PMID:19522823|PMID:19576851|PMID:19596260|PMID:19694205|PMID:19763152|PMID:19763184|PMID:19802898|PMID:19825962|PMID:19927285|PMID:20119652|PMID:20208144|PMID:20213850|PMID:20307669|PMID:20379037|PMID:20418362|PMID:20459544|PMID:20503330|PMID:20505258|PMID:20540712|PMID:20583550|PMID:20592014|PMID:20605972|PMID:20614293|PMID:20702724|PMID:20890271|PMID:20923864|PMID:20960097|PMID:21172883|PMID:21173220|PMID:21348866|PMID:21520333|PMID:21561462|PMID:21565294|PMID:21686655|PMID:21784903|PMID:21820839|PMID:21822798|PMID:21909610|PMID:21934479|PMID:21979946|PMID:22041710|PMID:22109755|PMID:22241717|PMID:22270996|PMID:22293219|PMID:22406018|PMID:22429592|PMID:22430264|PMID:22492777|PMID:22517554|PMID:22517557|PMID:22566194|PMID:22573489|PMID:22677546|PMID:22703879|PMID:22829200|PMID:22835832|PMID:22904323|PMID:22972948|PMID:22995128|PMID:22995991|PMID:23072324|PMID:2308387|PMID:23083876|PMID:23154831|PMID:23175444|PMID:23282968|PMID:23318864|PMID:23404858|PMID:23407919|PMID:23434467|PMID:23512077|PMID:23612575|PMID:23640968|PMID:23660872|PMID:23666964|PMID:23735539|PMID:23757202|PMID:23780556|PMID:23797725|PMID:23833252|PMID:23902947|PMID:23934599|PMID:24033266|PMID:24055113|PMID:24092654|PMID:24096523|PMID:24102379|PMID:24134185|PMID:24276837|PMID:24395865|PMID:24436918|PMID:24466223|PMID:24509376|PMID:24523625|PMID:24606901|PMID:24623741|PMID:24659481|PMID:24728327|PMID:24758379|PMID:24781345|PMID:24939699|PMID:24977658|PMID:25025441|PMID:25047027|PMID:25130709|PMID:25151137|PMID:25215250|PMID:25298897|PMID:25326637|PMID:25333069|PMID:25371406|PMID:25394176|PMID:25405498|PMID:25494863|PMID:25595276|PMID:25637381|PMID:25640679|PMID:25683602|PMID:25694510|PMID:25695889|PMID:25720320|PMID:25736212|PMID:25741868|PMID:25791839|PMID:25873086|PMID:25972245|PMID:25987131|PMID:26092435|PMID:26096992|PMID:26102504|PMID:26173966|PMID:26198225|PMID:26236513|PMID:26259135|PMID:26267327|PMID:26269449|PMID:26273102|PMID:26283294|PMID:26302408|PMID:26332594|PMID:26467025|PMID:26556299|PMID:26642834|PMID:26719882|PMID:26729832|PMID:26749241|PMID:26916530|PMID:26925370|PMID:26960314|PMID:27011036|PMID:27159321|PMID:27171833|PMID:27279923|PMID:27539324|PMID:27542510|PMID:27549546|PMID:27573198|PMID:27604842|PMID:27634942|PMID:27785149|PMID:27819762|PMID:27867439|PMID:27896548|PMID:27974047|PMID:28070496|PMID:28152038|PMID:28179334|PMID:28220018|PMID:28229225|PMID:28255624|PMID:28284009|PMID:28324028|PMID:28349240|PMID:28374168|PMID:28409892|PMID:28490599|PMID:28492532|PMID:28503760|PMID:28646318|PMID:28650885|PMID:28738844|PMID:28784873|PMID:28819017|PMID:28873162|PMID:28891197|PMID:28944243|PMID:28960644|PMID:28973655|PMID:29192238|PMID:29292578|PMID:29386252|PMID:29504908|PMID:29623478|PMID:29684080|PMID:29909963|PMID:29925701|PMID:29951630
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1318463	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Gastrointestinal Stromal Sarcoma | ClinVar Annotator: match by term: Gastrointestinal stroma tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor | ClinVar Annotator: match by term: Gastrointestinal stromal tumor, somatic	PMID:30050099|PMID:30087776|PMID:30122763|PMID:30152102|PMID:30155846|PMID:30201732|PMID:30217213|PMID:30352407|PMID:30487145|PMID:30536464|PMID:30549360|PMID:30658386|PMID:30694796|PMID:30877234|PMID:31046099|PMID:31104306|PMID:31194233|PMID:31212687|PMID:31216007|PMID:31308404|PMID:31365623|PMID:31492822|PMID:31666924|PMID:31705439|PMID:31780696|PMID:31883676|PMID:32023584|PMID:32035780|PMID:32124427|PMID:32460727|PMID:32462735|PMID:32659967|PMID:32661476|PMID:32688340|PMID:32741965|PMID:32859697|PMID:32863293|PMID:32963463|PMID:32971818|PMID:33219105|PMID:33300499|PMID:33362715|PMID:33391357|PMID:33397040|PMID:33420946|PMID:33558524|PMID:33564614|PMID:33628464|PMID:33748650|PMID:33777662|PMID:34052969|PMID:34069252|PMID:34072806|PMID:34095481|PMID:34118692|PMID:34255389|PMID:34308366|PMID:34309460|PMID:34377882|PMID:34439168|PMID:34439371|PMID:34452955|PMID:34466344|PMID:34490615|PMID:34654328|PMID:34750850|PMID:34906457|PMID:34939938|PMID:34940133|PMID:35060925|PMID:35127314|PMID:35171114|PMID:35441217|PMID:35460558|PMID:35546442|PMID:35673401|PMID:35739278|PMID:35870552|PMID:35904169|PMID:36200007|PMID:36288950|PMID:36387130|PMID:36597280|PMID:36654613|PMID:36786389|PMID:37529773|PMID:490809|PMID:7143317|PMID:9509062|PMID:9536098
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1318464	D	RGD:9068941	20220825	MouseDO		OMIM:125853 | OMIM:601283 | OMIM:601407 | OMIM:603694 | OMIM:608036	
12055679	SDHB	succinate dehydrogenase complex iron sulfur subunit B	gene	DOID:9408	acute myocardial infarction	ameliorates	ISO	RGD:1308598	D	RGD:9068941	20230831	RGD		associated with obesity	PMID:35257523|REF_RGD_ID:401794445
12055691	BACE2	beta-secretase 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1350115	D	RGD:9068941	20200609	RGD		mRNA,protein:increased expression:gyrus:	PMID:22074738|REF_RGD_ID:13782172
12055691	BACE2	beta-secretase 2	gene	DOID:10652	Alzheimer's disease	susceptibility	ISO	RGD:1350115	D	RGD:9068941	20200609	RGD		DNA:SNP,haplotype:exon:	PMID:16023140|REF_RGD_ID:13782180
12055691	BACE2	beta-secretase 2	gene	DOID:12849	autistic disorder		ISO	RGD:1350115	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
12055691	BACE2	beta-secretase 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1350115	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12055691	BACE2	beta-secretase 2	gene	DOID:9255	frontotemporal dementia		ISO	RGD:1350115	D	RGD:9068941	20200609	RGD		mRNA,protein, activity:increased expression, increased activity:gyrus:	PMID:22074738|REF_RGD_ID:13782172
12055691	BACE2	beta-secretase 2	gene	DOID:9352	type 2 diabetes mellitus	treatment	ISO	RGD:1551409	D	RGD:9068941	20200609	RGD			PMID:28337562|REF_RGD_ID:13782177
12055703	HAT1	histone acetyltransferase 1	gene	DOID:0090022	split hand-foot malformation 5		ISO	RGD:1313912	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Split hand-foot malformation 5	PMID:25741868
12055703	HAT1	histone acetyltransferase 1	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1305716	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:17182829|REF_RGD_ID:2316578
12055723	UBFD1	ubiquitin family domain containing 1	gene	DOID:0070257	congenital disorder of glycosylation type IIe		ISO	RGD:1606788	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: COG7 congenital disorder of glycosylation	PMID:28492532
12055723	UBFD1	ubiquitin family domain containing 1	gene	DOID:9008952	Breast Cancer, Familial		ISO	RGD:1606788	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Familial cancer of breast	PMID:17200668|PMID:17200671|PMID:19609323|PMID:28492532
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:0050336	hypophosphatemia		ISO	RGD:733664	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Hypophosphatemia	
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:0050445	X-linked dominant hypophosphatemic rickets		ISO	RGD:733664	D	RGD:7240710	20180130	OMIM			
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:0050445	X-linked dominant hypophosphatemic rickets		ISO	RGD:733664	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Familial X-linked hypophosphatemic vitamin D refractory rickets | ClinVar Annotator: match by term: PHEX-related condition | ClinVar Annotator: match by term: Vitamin D-resistant rickets,  X-linked	PMID:10439971|PMID:10737991|PMID:10874297|PMID:11004247|PMID:11468271|PMID:11502821|PMID:11502829|PMID:12414858|PMID:12727977|PMID:14564066|PMID:14564077|PMID:16055933|PMID:16199547|PMID:16303832|PMID:16636593|PMID:17576681|PMID:18162710|PMID:18252791|PMID:18625346|PMID:188828|PMID:19219621|PMID:19513579|PMID:21050253|PMID:21902834|PMID:21994957|PMID:22101457|PMID:22261628|PMID:22319799|PMID:22527485|PMID:22577109|PMID:22695891|PMID:23079138|PMID:23466123|PMID:23813354|PMID:24033266|PMID:24102521|PMID:24684036|PMID:24756041|PMID:24836714|PMID:24857004|PMID:24926462|PMID:25042154|PMID:25525159|PMID:25741868|PMID:25839938|PMID:2589938|PMID:26040324|PMID:26051471|PMID:26377240|PMID:26402641|PMID:26467025|PMID:26543054|PMID:26894575|PMID:27840894|PMID:28383812|PMID:28492532|PMID:28506344|PMID:28981921|PMID:29393334|PMID:29460029|PMID:29505567|PMID:29644095|PMID:29858904|PMID:29901142|PMID:30298485|PMID:30298486|PMID:30607568|PMID:30682568|PMID:30920082|PMID:31102713|PMID:31910300|PMID:32257293|PMID:32329911|PMID:32619592|PMID:32772199|PMID:33639975|PMID:33666701|PMID:3394683|PMID:34006472|PMID:34141703|PMID:34434907|PMID:34633109|PMID:34806794|PMID:35738466|PMID:35896147|PMID:36060934|PMID:36530187|PMID:36672821|PMID:37059315|PMID:38442738|PMID:7550339|PMID:9097956|PMID:9106524|PMID:9199930|PMID:9536098|PMID:9768646|PMID:9768674
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:0050948	autosomal dominant hypophosphatemic rickets		ISO	RGD:733664	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Autosomal dominant hypophosphatemic rickets	PMID:10439971|PMID:14564066|PMID:14564077|PMID:16055933|PMID:19219621|PMID:21902834|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32329911|PMID:9199930|PMID:9768674
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:0060799	syndromic X-linked intellectual disability Lubs type		ISO	RGD:733664	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type	PMID:25741868
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:11097	D	RGD:9068941	20200609	RGD		DNA:mutations:cds:	PMID:15029877|REF_RGD_ID:11556244
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:1074	kidney failure		ISO	RGD:3323	D	RGD:9068941	20200609	RGD		mRNA:increased expression:parathroid gland,tibia:	PMID:14693675|REF_RGD_ID:11556273
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:10754	otitis media		ISO	RGD:11097	D	RGD:9068941	20220825	MouseDO		OMIM:166760	
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:12679	nephrocalcinosis		ISO	RGD:733664	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:9430241
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:12849	autistic disorder		ISO	RGD:733664	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:630	genetic disease		ISO	RGD:733664	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10737991|PMID:25741868|PMID:28492532|PMID:34806794|PMID:36051396
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:9000099	Experimental Colitis		ISO	RGD:11097	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:bone:	PMID:16890604|REF_RGD_ID:11556253
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:9001197	Unilateral Deafness with Delayed Endolymphatic Hydrops		ISO	RGD:11097	D	RGD:9068941	20200609	RGD		DNA:mutation:cds:	PMID:18289812|REF_RGD_ID:11556245
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:9001458	Hypophosphatemic Rickets		ISO	RGD:733664	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets | ClinVar Annotator: match by term: Hypophosphatemic rickets	PMID:10737991|PMID:11004247|PMID:11468271|PMID:11502829|PMID:12414858|PMID:12727977|PMID:16199547|PMID:16636593|PMID:18162710|PMID:18625346|PMID:19219621|PMID:21902834|PMID:21994957|PMID:22261628|PMID:22695891|PMID:23079138|PMID:23466123|PMID:24684036|PMID:24836714|PMID:25031893|PMID:25042154|PMID:25741868|PMID:26040324|PMID:26377240|PMID:26467025|PMID:27840894|PMID:28492532|PMID:29460029|PMID:29505567|PMID:29707405|PMID:29858904|PMID:30298486|PMID:30607568|PMID:30682568|PMID:31910300|PMID:34633109|PMID:34806794|PMID:35738466|PMID:36530187|PMID:9097956|PMID:9106524|PMID:9199930|PMID:9768674
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:9001458	Hypophosphatemic Rickets		ISO	RGD:733664	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: HYPOPHOSPHATEMIC VITAMIN D-RESISTANT RICKETS | ClinVar Annotator: match by term: Hypophosphatemia, vitamin D-resistant rickets | ClinVar Annotator: match by term: Hypophosphatemic rickets	PMID:10737991|PMID:11004247|PMID:11468271|PMID:11502829|PMID:12414858|PMID:12727977|PMID:16199547|PMID:16636593|PMID:18162710|PMID:18625346|PMID:19219621|PMID:21902834|PMID:21994957|PMID:22261628|PMID:22319799|PMID:22695891|PMID:23079138|PMID:23466123|PMID:24684036|PMID:24836714|PMID:25031893|PMID:25042154|PMID:25741868|PMID:26040324|PMID:26377240|PMID:26467025|PMID:27840894|PMID:28492532|PMID:29460029|PMID:29505567|PMID:29707405|PMID:29858904|PMID:30298486|PMID:30607568|PMID:30682568|PMID:31910300|PMID:34633109|PMID:34806794|PMID:35738466|PMID:36530187|PMID:37059315|PMID:9097956|PMID:9106524|PMID:9199930|PMID:9768674
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:733664	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:9007505	Familial Hypophosphatemic Rickets		ISO	RGD:733664	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Familial Hypophosphatemic Rickets	PMID:11468271|PMID:12727977|PMID:18625346|PMID:24684036|PMID:25741868|PMID:28492532|PMID:29858904|PMID:9097956|PMID:9199930
12055761	PHEX	phosphate regulating endopeptidase X-linked	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:733664	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:1962291
12055791	LY6G6F	lymphocyte antigen 6 family member G6F	gene	DOID:0050553	proteasome-associated autoinflammatory syndrome 1		ISO	RGD:1342827	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Proteasome-associated autoinflammatory syndrome 1	PMID:28492532
12055791	LY6G6F	lymphocyte antigen 6 family member G6F	gene	DOID:11372	megacolon		ISO	RGD:1342827	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Megacolon	PMID:21681106
12055805	ABCC10	ATP binding cassette subfamily C member 10	gene	DOID:0050444	infantile Refsum disease		ISO	RGD:1315462	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL	PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792
12055805	ABCC10	ATP binding cassette subfamily C member 10	gene	DOID:9002801	Recurrence		ISO	RGD:1315462	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:35837087
12055805	ABCC10	ATP binding cassette subfamily C member 10	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1315462	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:35837087
12055805	ABCC10	ATP binding cassette subfamily C member 10	gene	DOID:905	Zellweger syndrome		ISO	RGD:1315462	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorders, Zellweger syndrome spectrum	PMID:19877282|PMID:21031596|PMID:28492532|PMID:8670792
12055840	HS3ST5	heparan sulfate-glucosamine 3-sulfotransferase 5	gene	DOID:0060163	body dysmorphic disorder		ISO	RGD:1314962	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dysmorphic features	PMID:24824130
12055840	HS3ST5	heparan sulfate-glucosamine 3-sulfotransferase 5	gene	DOID:1909	melanoma		ISO	RGD:1314962	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22535842
12055864	COL22A1	collagen type XXII alpha 1 chain	gene	DOID:10941	intracranial aneurysm	susceptibility	ISO	RGD:1319222	D	RGD:9068941	20200609	RGD		DNA:SNPs:cds:multiple(human)	PMID:30541770|REF_RGD_ID:13831344
12055864	COL22A1	collagen type XXII alpha 1 chain	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1319222	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941189
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:0080016	spina bifida	susceptibility	ISO	RGD:1606343	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.D148E (human)	PMID:15887293|REF_RGD_ID:2315675
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:11054	urinary bladder cancer	susceptibility	ISO	RGD:1606343	D	RGD:9068941	20200609	RGD			PMID:19041121|REF_RGD_ID:2315660
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:114	heart disease		ISO	RGD:1606343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22262564
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:13129	severe pre-eclampsia	susceptibility	ISO	RGD:1606343	D	RGD:9068941	20231026	RGD		DNA:polymorphism::p.D148E (human)	PMID:24619222|REF_RGD_ID:401850778
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:1380	endometrial cancer		ISO	RGD:1606343	D	RGD:9068941	20200609	RGD		DNA:nonsense mutation, missense mutations: :p.W188X, p.P112L, p.R237C (human)	PMID:11465542|REF_RGD_ID:2315878
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:1612	breast cancer	susceptibility	ISO	RGD:1606343	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.D148E (human)	PMID:18701435|REF_RGD_ID:2315661
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:1824	status epilepticus		ISO	RGD:2126	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:11852039|REF_RGD_ID:1599366
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:1909	melanoma		ISO	RGD:1606343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16373707
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:2316	brain ischemia		ISO	RGD:2126	D	RGD:9068941	20200609	RGD		protein:decreased expression:hippocampus CA1, neuron	PMID:9030714|REF_RGD_ID:2315686
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:2394	ovarian cancer		ISO	RGD:1606343	D	RGD:9068941	20200609	RGD			PMID:17974506|PMID:19787261|REF_RGD_ID:2315656|REF_RGD_ID:2315663
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:2893	cervix carcinoma		ISO	RGD:1606343	D	RGD:9068941	20200609	RGD		DNA:SNPs (human)	PMID:19202550|REF_RGD_ID:2315691
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:3459	breast carcinoma	disease_progression	ISO	RGD:1606343	D	RGD:9068941	20200609	RGD		protein:altered localization:cytoplasm	PMID:11748448|REF_RGD_ID:2315667
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:3910	lung adenocarcinoma		ISO	RGD:1606343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606343	D	RGD:9068941	20200609	RGD			PMID:19292061|REF_RGD_ID:2315657
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:4362	cervical cancer		ISO	RGD:1606343	D	RGD:9068941	20200609	RGD		DNA:polymorphism: :p.D148E (human)	PMID:18503157|REF_RGD_ID:2315662
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:5813	purine nucleoside phosphorylase deficiency		ISO	RGD:1606343	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency	PMID:24767876|PMID:28492532
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:5844	myocardial infarction	susceptibility	ISO	RGD:1606343	D	RGD:9068941	20230928	RGD		DNA:polymorphism:exon 5: G>A (human)	PMID:18712175|REF_RGD_ID:401827276
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1606343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25109342
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:2126	D	RGD:9068941	20220714	RGD			PMID:33841550|REF_RGD_ID:152998960
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:850	lung disease		ISO	RGD:2126	D	RGD:9068941	20200609	RGD			PMID:17280489|REF_RGD_ID:2315673
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:8634	prostate carcinoma in situ		ISO	RGD:1606343	D	RGD:9068941	20200609	RGD		protein:increased expression, altered localization:prostate, cytoplasm	PMID:11309329|REF_RGD_ID:2315666
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:9000039	Spinal Cord Injuries		ISO	RGD:2126	D	RGD:9068941	20200609	RGD		mRNA:increased expression:spinal cord	PMID:18637713|REF_RGD_ID:2315670
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1606343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:9000397	Genetic Predisposition to Disease		ISO	RGD:1606343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24036326
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:9000918	Disease Progression		ISO	RGD:1606343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:9000998	Brain Injuries		ISO	RGD:1606343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11447995
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1606343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16406883|PMID:29541389
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1606343	D	RGD:9068941	20200609	RGD		protein:increased expression, altered localization:prostate, cytoplasm	PMID:11309329|REF_RGD_ID:2315666
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:9002304	Prostatic Neoplasms	susceptibility	ISO	RGD:1606343	D	RGD:9068941	20200609	RGD			PMID:16406883|REF_RGD_ID:2315665
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:2126	D	RGD:9068941	20200609	RGD			PMID:15344903|REF_RGD_ID:2315676
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:9004009	Reperfusion Injury		ISO	RGD:2126	D	RGD:9068941	20200609	RGD		protein:increased expression:placenta	PMID:18373555|REF_RGD_ID:2315671
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:9006205	Animal Disease Models		ISO	RGD:1606343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27602772
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:9006676	Micronuclei, Chromosome-Defective		ISO	RGD:1606343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22245109
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:9007090	Experimental Seizures		ISO	RGD:2126	D	RGD:9068941	20241107	RGD		protein:increased expression:neuron	PMID:15854596|REF_RGD_ID:2302852
12055936	APEX1	apurinic/apyrimidinic endodeoxyribonuclease 1	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:2126	D	RGD:9068941	20200609	RGD		protein:altered localization:cytoplasm	PMID:17602955|REF_RGD_ID:2315672
12055945	SMTNL1	smoothelin like 1	gene	DOID:1059	intellectual disability		ISO	RGD:1601815	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12055957	AGTPBP1	ATP/GTP binding carboxypeptidase 1	gene	DOID:630	genetic disease		ISO	RGD:1314853	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12055957	AGTPBP1	ATP/GTP binding carboxypeptidase 1	gene	DOID:9000084	Childhood-Onset Neurodegeneration with Cerebellar Atrophy		ISO	RGD:1314853	D	RGD:7240710	20190501	OMIM			
12055957	AGTPBP1	ATP/GTP binding carboxypeptidase 1	gene	DOID:9000084	Childhood-Onset Neurodegeneration with Cerebellar Atrophy		ISO	RGD:1314853	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with cerebellar atrophy	PMID:25741868|PMID:30420557|PMID:33624935
12055957	AGTPBP1	ATP/GTP binding carboxypeptidase 1	gene	DOID:9002955	Nerve Degeneration		ISO	RGD:1314853	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16952463
12055957	AGTPBP1	ATP/GTP binding carboxypeptidase 1	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1314853	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Global developmental delay	
12055957	AGTPBP1	ATP/GTP binding carboxypeptidase 1	gene	DOID:9009220	NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES		ISO	RGD:1314853	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	PMID:25741868|PMID:30420557
12055991	NUP62	nucleoporin 62	gene	DOID:0080459	developmental and epileptic encephalopathy 12		ISO	RGD:1349933	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 12	PMID:28492532
12055991	NUP62	nucleoporin 62	gene	DOID:12236	primary biliary cholangitis	severity	ISO	RGD:1349933	D	RGD:9068941	20200609	RGD			PMID:12753810|REF_RGD_ID:9831196
12055991	NUP62	nucleoporin 62	gene	DOID:9008334	Striatonigral Degeneration, Infantile		ISO	RGD:1349933	D	RGD:7240710	20180130	OMIM			
12055991	NUP62	nucleoporin 62	gene	DOID:9008334	Striatonigral Degeneration, Infantile		ISO	RGD:1349933	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: BILATERAL STRIATAL NECROSIS, INFANTILE | ClinVar Annotator: match by term: Infantile bilateral striatal necrosis | ClinVar Annotator: match by term: NUP62-related condition	PMID:16786527|PMID:25741868|PMID:28492532
12056023	PSD	pleckstrin and Sec7 domain containing	gene	DOID:0081152	common variable immunodeficiency 10		ISO	RGD:733797	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Immunodeficiency, common variable, 10	PMID:24140114|PMID:24702956|PMID:25524009|PMID:25605273|PMID:25741868|PMID:28492532|PMID:28778864|PMID:29225085|PMID:30941118
12056023	PSD	pleckstrin and Sec7 domain containing	gene	DOID:12177	common variable immunodeficiency		ISO	RGD:733797	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Common variable immunodeficiency	PMID:24140114|PMID:24702956|PMID:25524009|PMID:25605273|PMID:25741868|PMID:28492532|PMID:28778864|PMID:29225085|PMID:30941118
12056023	PSD	pleckstrin and Sec7 domain containing	gene	DOID:612	primary immunodeficiency disease		ISO	RGD:733797	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inherited Immunodeficiency Diseases	PMID:24140114|PMID:24702956|PMID:25524009|PMID:25605273|PMID:25741868|PMID:28492532|PMID:28778864|PMID:29225085|PMID:30941118
12056061	CHSY1	chondroitin sulfate synthase 1	gene	DOID:0050814	temtamy preaxial brachydactyly syndrome		ISO	RGD:1323606	D	RGD:7240710	20180130	OMIM			
12056061	CHSY1	chondroitin sulfate synthase 1	gene	DOID:0050814	temtamy preaxial brachydactyly syndrome		ISO	RGD:1323606	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: CHSY1-related condition | ClinVar Annotator: match by term: Temtamy preaxial brachydactyly syndrome	PMID:19952732|PMID:21129727|PMID:21129728|PMID:25741868|PMID:26467025|PMID:28492532|PMID:9823490
12056061	CHSY1	chondroitin sulfate synthase 1	gene	DOID:0060397	chromosome 15q26-qter deletion syndrome		ISO	RGD:1323606	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Chromosome 15q26-qter deletion syndrome	PMID:31690835
12056061	CHSY1	chondroitin sulfate synthase 1	gene	DOID:630	genetic disease		ISO	RGD:1323606	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:21129728|PMID:25741868|PMID:26467025|PMID:28492532
12056061	CHSY1	chondroitin sulfate synthase 1	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1323606	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12056061	CHSY1	chondroitin sulfate synthase 1	gene	DOID:9004538	Hearing Loss		ISO	RGD:1323606	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hearing impairment	PMID:30872814
12056068	UBASH3B	ubiquitin associated and SH3 domain containing B	gene	DOID:0070614	chromosome 11 partial duplication syndrome		ISO	RGD:1605914	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Distal trisomy 11q	PMID:25741868
12056068	UBASH3B	ubiquitin associated and SH3 domain containing B	gene	DOID:5419	schizophrenia		ISO	RGD:1605914	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
12056068	UBASH3B	ubiquitin associated and SH3 domain containing B	gene	DOID:9007661	Dwarfism		ISO	RGD:1605914	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Short stature	PMID:32581362
12056086	KCNC4	potassium voltage-gated channel subfamily C member 4	gene	DOID:0080416	developmental and epileptic encephalopathy 32		ISO	RGD:1348258	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 32	PMID:17634333|PMID:25950944|PMID:27457812|PMID:28492532|PMID:33802230
12056086	KCNC4	potassium voltage-gated channel subfamily C member 4	gene	DOID:0110814	hereditary spastic paraplegia 63		ISO	RGD:1348258	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 63	PMID:23911318|PMID:28492532
12056086	KCNC4	potassium voltage-gated channel subfamily C member 4	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1348258	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:  frontal cortex	PMID:15485486|REF_RGD_ID:10411900
12056086	KCNC4	potassium voltage-gated channel subfamily C member 4	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1616662	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:neocortex (mouse)	PMID:21912965|REF_RGD_ID:9686062
12056086	KCNC4	potassium voltage-gated channel subfamily C member 4	gene	DOID:11446	sciatic neuropathy		ISO	RGD:1589169	D	RGD:9068941	20200609	RGD			PMID:17855600|REF_RGD_ID:10411908
12056086	KCNC4	potassium voltage-gated channel subfamily C member 4	gene	DOID:12849	autistic disorder		ISO	RGD:1348258	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
12056086	KCNC4	potassium voltage-gated channel subfamily C member 4	gene	DOID:1824	status epilepticus		ISO	RGD:1589169	D	RGD:9068941	20200609	RGD			PMID:20971086|REF_RGD_ID:10411905
12056086	KCNC4	potassium voltage-gated channel subfamily C member 4	gene	DOID:1824	status epilepticus		ISO	RGD:1589169	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:subiculum, perirhinal cortex, entorhinal cortex (rat)	PMID:17942314|REF_RGD_ID:9686050
12056086	KCNC4	potassium voltage-gated channel subfamily C member 4	gene	DOID:3328	temporal lobe epilepsy		ISO	RGD:1348258	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20971086
12056086	KCNC4	potassium voltage-gated channel subfamily C member 4	gene	DOID:9002211	Hyperalgesia		ISO	RGD:1589169	D	RGD:9068941	20200609	RGD			PMID:17855600|REF_RGD_ID:10411908
12056103	DNAAF5	dynein axonemal assembly factor 5	gene	DOID:0110604	primary ciliary dyskinesia 18		ISO	RGD:1606283	D	RGD:7240710	20190315	OMIM			
12056103	DNAAF5	dynein axonemal assembly factor 5	gene	DOID:0110604	primary ciliary dyskinesia 18		ISO	RGD:1606283	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: DNAAF5-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 18	PMID:16199547|PMID:17576681|PMID:20301301|PMID:23040496|PMID:24033266|PMID:24307375|PMID:25232951|PMID:25741868|PMID:28492532|PMID:29358401|PMID:29363216|PMID:37104040|PMID:9536098
12056103	DNAAF5	dynein axonemal assembly factor 5	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:1606283	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy	PMID:28492532
12056103	DNAAF5	dynein axonemal assembly factor 5	gene	DOID:12336	male infertility		ISO	RGD:1615463	D	RGD:9068941	20240111	MouseDO			
12056103	DNAAF5	dynein axonemal assembly factor 5	gene	DOID:5419	schizophrenia		ISO	RGD:1606283	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
12056103	DNAAF5	dynein axonemal assembly factor 5	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1606283	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:16199547|PMID:17576681|PMID:20301301|PMID:23040496|PMID:24033266|PMID:24307375|PMID:25232951|PMID:25741868|PMID:28492532|PMID:29358401|PMID:29363216|PMID:37104040|PMID:9536098
12056120	DHX33	DEAH-box helicase 33	gene	DOID:0080453	developmental and epileptic encephalopathy 25		ISO	RGD:1316314	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 25	PMID:28492532
12056135	RPL32	ribosomal protein L32	gene	DOID:0111947	immunodeficiency 21		ISO	RGD:1602666	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: GATA2 DEFICIENCY	PMID:28492532
12056135	RPL32	ribosomal protein L32	gene	DOID:12849	autistic disorder		ISO	RGD:1602666	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Autism	
12056135	RPL32	ribosomal protein L32	gene	DOID:9008754	Primary Lymphedema with Myelodysplasia		ISO	RGD:1602666	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Emberger syndrome	PMID:19449416|PMID:22147895|PMID:25741868|PMID:26710799|PMID:28492532
12056135	RPL32	ribosomal protein L32	gene	DOID:9270	alkaptonuria		ISO	RGD:1602666	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Alkaptonuria	PMID:12501223|PMID:19862842|PMID:28492532
12056143	SAMD12	sterile alpha motif domain containing 12	gene	DOID:0080376	trichorhinophalangeal syndrome type III		ISO	RGD:1344782	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Trichorhinophalangeal syndrome, type III	PMID:11112658|PMID:25792522|PMID:28492532
12056143	SAMD12	sterile alpha motif domain containing 12	gene	DOID:0111690	familial adult myoclonic epilepsy 1		ISO	RGD:1344782	D	RGD:7240710	20190315	OMIM			
12056143	SAMD12	sterile alpha motif domain containing 12	gene	DOID:0111690	familial adult myoclonic epilepsy 1		ISO	RGD:1344782	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Epilepsy, familial adult myoclonic, 1	PMID:25741868
12056143	SAMD12	sterile alpha motif domain containing 12	gene	DOID:14743	trichorhinophalangeal syndrome type I		ISO	RGD:1344782	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Trichorhinophalangeal dysplasia type I	PMID:25741868
12056143	SAMD12	sterile alpha motif domain containing 12	gene	DOID:206	hereditary multiple exostoses		ISO	RGD:1344782	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Multiple congenital exostosis	PMID:10679937|PMID:11391482|PMID:19810120|PMID:28492532|PMID:29126381
12056143	SAMD12	sterile alpha motif domain containing 12	gene	DOID:630	genetic disease		ISO	RGD:1344782	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12056143	SAMD12	sterile alpha motif domain containing 12	gene	DOID:9005154	Myoclonic Epilepsies		ISO	RGD:1344782	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29507423
12056165	FXN	frataxin	gene	DOID:0111218	Friedreich ataxia 1		ISO	RGD:1604403	D	RGD:7240710	20180130	OMIM			
12056165	FXN	frataxin	gene	DOID:0111218	Friedreich ataxia 1		ISO	RGD:1604403	D	RGD:8554872	20240917	ClinVar		ClinVar Annotator: match by term: FXN-related disorder | ClinVar Annotator: match by term: Friedreich ataxia 1	PMID:10913738|PMID:17331979|PMID:19775837|PMID:21412413|PMID:21671584|PMID:25566998|PMID:25741868|PMID:26467025|PMID:31673878|PMID:34747814|PMID:34906502|PMID:8596916|PMID:8751856|PMID:9090376|PMID:9700204|PMID:9737785
12056165	FXN	frataxin	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:1604403	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	PMID:15936968|PMID:25741868
12056165	FXN	frataxin	gene	DOID:12705	Friedreich ataxia		ISO	RGD:1604403	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Friedreich ataxia	PMID:10543403|PMID:10732799|PMID:10913738|PMID:11020385|PMID:11030757|PMID:11843702|PMID:12019217|PMID:17331979|PMID:17703324|PMID:18537827|PMID:19494730|PMID:19629184|PMID:19775837|PMID:20162437|PMID:21298097|PMID:21412413|PMID:21671584|PMID:25566998|PMID:25741868|PMID:26301374|PMID:26339677|PMID:26467025|PMID:26704351|PMID:28812047|PMID:31980526|PMID:34747814|PMID:8596916|PMID:8751856|PMID:9090376|PMID:9150176|PMID:9700204|PMID:9737785|PMID:9989622
12056165	FXN	frataxin	gene	DOID:12705	Friedreich ataxia	onset	ISO	RGD:1604403	D	RGD:9068941	20230817	RGD		DNA:repeat,deletion:intron,exon:GAA(human)	PMID:22409940|REF_RGD_ID:401793711
12056165	FXN	frataxin	gene	DOID:12705	Friedreich ataxia	treatment	ISO	RGD:1604403	D	RGD:9068941	20230817	RGD			PMID:22113996|PMID:32646255|PMID:37166361|REF_RGD_ID:401793707|REF_RGD_ID:401793708|REF_RGD_ID:401793713
12056165	FXN	frataxin	gene	DOID:3068	glioblastoma		ISO	RGD:1604403	D	RGD:9068941	20230817	RGD			PMID:21863062|REF_RGD_ID:401793715
12056165	FXN	frataxin	gene	DOID:630	genetic disease		ISO	RGD:1604403	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:15936968|PMID:19852779|PMID:25741868|PMID:26467025|PMID:28492532
12056165	FXN	frataxin	gene	DOID:9000777	Mitochondrial Cardiomyopathy	treatment	ISO	RGD:1604403	D	RGD:9068941	20230817	RGD		associated with Friedreich ataxia	PMID:24705334|REF_RGD_ID:401793714
12056165	FXN	frataxin	gene	DOID:9001725	Retina Reperfusion Injury		ISO	RGD:1551716	D	RGD:9068941	20230812	RGD			PMID:27537261|REF_RGD_ID:401793704
12056165	FXN	frataxin	gene	DOID:9001725	Retina Reperfusion Injury	ameliorates	ISO	RGD:1604403	D	RGD:9068941	20230812	RGD			PMID:27537261|REF_RGD_ID:401793704
12056165	FXN	frataxin	gene	DOID:9002021	Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined		ISO	RGD:1604403	D	RGD:8554872	20240917	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth-like disease	PMID:25741868|PMID:31673878
12056165	FXN	frataxin	gene	DOID:9002320	Neurobehavioral Manifestations		ISO	RGD:1604403	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26954031
12056165	FXN	frataxin	gene	DOID:9007692	Insulin Resistance		ISO	RGD:1604403	D	RGD:9068941	20200609	RGD		DNA:repeats:intron:GAA (human)	PMID:10969848|REF_RGD_ID:2307049
12056165	FXN	frataxin	gene	DOID:9351	diabetes mellitus		ISO	RGD:1551716	D	RGD:9068941	20200609	RGD		DNA:deletion:exon (mouse)	PMID:12925693|REF_RGD_ID:2307048
12056165	FXN	frataxin	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1604403	D	RGD:9068941	20200609	RGD		DNA:repeats:intron:GAA (human)	PMID:9588463|REF_RGD_ID:2307050
12056165	FXN	frataxin	gene	DOID:9352	type 2 diabetes mellitus	no_association	ISO	RGD:1604403	D	RGD:9068941	20200609	RGD		DNA:repeats:intron:GAA (human)	PMID:10102715|REF_RGD_ID:2307051
12056165	FXN	frataxin	gene	DOID:9970	obesity		ISO	RGD:1551716	D	RGD:9068941	20200609	RGD		DNA:deletion:exon (mouse)	PMID:17404227|REF_RGD_ID:2307045
12056174	ASPN	asporin	gene	DOID:0050548	hereditary sensory neuropathy		ISO	RGD:1345823	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Neuropathy hereditary sensory radicular, autosomal dominant	PMID:28492532
12056174	ASPN	asporin	gene	DOID:0070162	hereditary sensory and autonomic neuropathy type 1		ISO	RGD:1345823	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 1	PMID:28492532
12056174	ASPN	asporin	gene	DOID:0070349	spinal muscular atrophy with lower extremity predominant 2A		ISO	RGD:1345823	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant	PMID:28492532
12056174	ASPN	asporin	gene	DOID:7147	ankylosing spondylitis	susceptibility	ISO	RGD:1345823	D	RGD:9068941	20200609	RGD		DNA:repeats:exon:	PMID:20144272|REF_RGD_ID:9684964
12056174	ASPN	asporin	gene	DOID:8398	osteoarthritis		ISO	RGD:1345823	D	RGD:7240710	20241225	OMIM			
12056174	ASPN	asporin	gene	DOID:8398	osteoarthritis	no_association	ISO	RGD:1345823	D	RGD:9068941	20200609	RGD		DNA:repeats:exon:	PMID:16542493|REF_RGD_ID:9684966
12056174	ASPN	asporin	gene	DOID:90	degenerative disc disease	severity	ISO	RGD:1345823	D	RGD:9068941	20200609	RGD		mRNA:increased expression:intervertebral disk:	PMID:19327154|REF_RGD_ID:9684961
12056174	ASPN	asporin	gene	DOID:90	degenerative disc disease	susceptibility	ISO	RGD:1345823	D	RGD:9068941	20200609	RGD		DNA:repeats:exon:	PMID:18304494|REF_RGD_ID:9684970
12056174	ASPN	asporin	gene	DOID:9000058	Keloid		ISO	RGD:1345823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20128793
12056174	ASPN	asporin	gene	DOID:9000585	Intervertebral Disc Disease		ISO	RGD:1345823	D	RGD:7240710	20241225	OMIM			
12056174	ASPN	asporin	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1345823	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12056174	ASPN	asporin	gene	DOID:9002331	Knee Osteoarthritis		ISO	RGD:1345823	D	RGD:9068941	20200609	RGD		mRNA:increased expression:cartilage:	PMID:15640800|REF_RGD_ID:9684965
12056174	ASPN	asporin	gene	DOID:9002331	Knee Osteoarthritis	severity	ISO	RGD:1345823	D	RGD:9068941	20200609	RGD		DNA:repeats:exon:	PMID:15640800|REF_RGD_ID:9684965
12056174	ASPN	asporin	gene	DOID:9006041	Osteoarthritis, Hip		ISO	RGD:1345823	D	RGD:9068941	20200609	RGD		DNA:repeats:exon:	PMID:15640800|REF_RGD_ID:9684965
12056174	ASPN	asporin	gene	DOID:9007078	Hip Dislocation	susceptibility	ISO	RGD:1345823	D	RGD:9068941	20200609	RGD		DNA:repeats:exon:	PMID:21329514|REF_RGD_ID:9684968
12056186	PLSCR4	phospholipid scramblase 4	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1323284	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Sensorineural hearing loss disorder	PMID:25741868
12056186	PLSCR4	phospholipid scramblase 4	gene	DOID:5409	lung small cell carcinoma		ISO	RGD:1323284	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22941189
12056203	C26H12orf43	chromosome 26 C12orf43 homolog	gene	DOID:0050524	maturity-onset diabetes of the young		ISO	RGD:1603965	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Maturity onset diabetes mellitus in young	PMID:10333057|PMID:10588527|PMID:11942313|PMID:23348805|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28012402|PMID:28170077|PMID:28410371|PMID:28492532|PMID:31517624|PMID:32238361|PMID:32395877|PMID:33046911|PMID:35328643|PMID:35472491|PMID:35673428|PMID:36257325|PMID:9392505|PMID:9626139
12056203	C26H12orf43	chromosome 26 C12orf43 homolog	gene	DOID:0080154	short chain acyl-CoA dehydrogenase deficiency		ISO	RGD:1603965	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Deficiency of butyryl-CoA dehydrogenase	PMID:28492532
12056203	C26H12orf43	chromosome 26 C12orf43 homolog	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:1603965	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25057215|PMID:25741868
12056203	C26H12orf43	chromosome 26 C12orf43 homolog	gene	DOID:0111102	maturity-onset diabetes of the young type 3		ISO	RGD:1603965	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Maturity-onset diabetes of the young type 3	PMID:10333057|PMID:10482964|PMID:10588527|PMID:11942313|PMID:12488962|PMID:12530534|PMID:22432108|PMID:23348805|PMID:24728327|PMID:25057215|PMID:25414397|PMID:25741868|PMID:26287533|PMID:26467025|PMID:28012402|PMID:28170077|PMID:28410371|PMID:28492532|PMID:31517624|PMID:32238361|PMID:32395877|PMID:32910913|PMID:33046911|PMID:35299962|PMID:35328643|PMID:35472491|PMID:35673428|PMID:36257325|PMID:9075818|PMID:9392505|PMID:9562352|PMID:9626139
12056203	C26H12orf43	chromosome 26 C12orf43 homolog	gene	DOID:11714	gestational diabetes		ISO	RGD:1603965	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Gestational diabetes	PMID:25741868|PMID:35299962|PMID:9562352
12056203	C26H12orf43	chromosome 26 C12orf43 homolog	gene	DOID:2394	ovarian cancer		ISO	RGD:1603965	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:10588527|PMID:23348805|PMID:24728327|PMID:25741868|PMID:26467025|PMID:28492532|PMID:32238361
12056203	C26H12orf43	chromosome 26 C12orf43 homolog	gene	DOID:9000149	Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive		ISO	RGD:1603965	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Keratoderma-ichthyosis-deafness syndrome, autosomal recessive	PMID:30561130
12056203	C26H12orf43	chromosome 26 C12orf43 homolog	gene	DOID:9351	diabetes mellitus		ISO	RGD:1603965	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Monogenic diabetes	PMID:10333057|PMID:10482964|PMID:11942313|PMID:12488962|PMID:12530534|PMID:22432108|PMID:24728327|PMID:25414397|PMID:25741868|PMID:26287533|PMID:26467025|PMID:28012402|PMID:28170077|PMID:28410371|PMID:30561130|PMID:31517624|PMID:32395877|PMID:32910913|PMID:35328643|PMID:35472491|PMID:35673428|PMID:36257325|PMID:9075818|PMID:9392505
12056203	C26H12orf43	chromosome 26 C12orf43 homolog	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1603965	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:25057215|PMID:25741868
12056203	C26H12orf43	chromosome 26 C12orf43 homolog	gene	DOID:9744	type 1 diabetes mellitus		ISO	RGD:1603965	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Diabetes mellitus type 1	PMID:25741868
12056219	AHCYL1	adenosylhomocysteinase like 1	gene	DOID:0110814	hereditary spastic paraplegia 63		ISO	RGD:1320280	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia 63	PMID:23911318|PMID:28492532
12056219	AHCYL1	adenosylhomocysteinase like 1	gene	DOID:12849	autistic disorder		ISO	RGD:1320280	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
12056258	PEAK3	PEAK family member 3	gene	DOID:0111450	progressive myoclonus epilepsy 9		ISO	RGD:1352021	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 9	PMID:28492532
12056258	PEAK3	PEAK family member 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1352021	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12056266	TMEM187	transmembrane protein 187	gene	DOID:0050454	periventricular nodular heterotopia		ISO	RGD:1354491	D	RGD:8554872	20230314	ClinVar		ClinVar Annotator: match by term: Heterotopia, periventricular, X-linked dominant | ClinVar Annotator: match by term: Nodular heterotopia bilateral periventricular	PMID:10480214|PMID:11748843|PMID:11968085|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17546640|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24098143|PMID:24365856|PMID:24962355|PMID:25817843|PMID:26471271|PMID:28492532|PMID:29334594|PMID:9384614
12056266	TMEM187	transmembrane protein 187	gene	DOID:0050476	Barth syndrome		ISO	RGD:1354491	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: 3-Methylglutaconic aciduria type 2 | ClinVar Annotator: match by term: Cardioskeletal myopathy with neutropenia and abnormal mitochondria	PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:35384376|PMID:9384614
12056266	TMEM187	transmembrane protein 187	gene	DOID:0050800	cerebral creatine deficiency syndrome 1		ISO	RGD:1354491	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Creatine transporter deficiency	PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:15351775|PMID:15689435|PMID:16080119|PMID:16427346|PMID:16601897|PMID:16684786|PMID:17088400|PMID:17172942|PMID:18047645|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:22578097|PMID:22659343|PMID:23220634|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:26930212|PMID:28492532|PMID:29334594|PMID:35384376|PMID:9384614
12056266	TMEM187	transmembrane protein 187	gene	DOID:0060799	syndromic X-linked intellectual disability Lubs type		ISO	RGD:1354491	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type	PMID:22679399|PMID:25741868|PMID:27247049|PMID:27761913|PMID:28257338|PMID:29141583|PMID:30788845|PMID:31690835
12056266	TMEM187	transmembrane protein 187	gene	DOID:0111784	otopalatodigital syndrome type 2		ISO	RGD:1354491	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Otopalatodigital Syndrome, Type II	PMID:15689435|PMID:16080119|PMID:28492532
12056266	TMEM187	transmembrane protein 187	gene	DOID:0111785	frontometaphyseal dysplasia		ISO	RGD:1354491	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Frontometaphyseal dysplasia	PMID:15689435|PMID:16080119|PMID:28492532
12056266	TMEM187	transmembrane protein 187	gene	DOID:0111788	Melnick-Needles syndrome		ISO	RGD:1354491	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Osteodysplasty of Melnick and Needles	PMID:15689435|PMID:16080119|PMID:28492532
12056266	TMEM187	transmembrane protein 187	gene	DOID:0111814	methylmalonic acidemia and homocysteinemia cblX type		ISO	RGD:1354491	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 3	PMID:15689435|PMID:16080119|PMID:28492532
12056266	TMEM187	transmembrane protein 187	gene	DOID:0111823	autosomal hemophilia A		ISO	RGD:1354491	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A	PMID:31690835
12056266	TMEM187	transmembrane protein 187	gene	DOID:0111932	severe congenital encephalopathy due to MECP2 mutation		ISO	RGD:1354491	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Severe neonatal-onset encephalopathy with microcephaly	PMID:12180070|PMID:15351775|PMID:15689435|PMID:15841480|PMID:16080119|PMID:17088400|PMID:17172942|PMID:18047645|PMID:18562171|PMID:22578097|PMID:22659343|PMID:22679399|PMID:23220634|PMID:23810759|PMID:26930212|PMID:28492532
12056266	TMEM187	transmembrane protein 187	gene	DOID:0112003	immunodeficiency 33		ISO	RGD:1354491	D	RGD:8554872	20220614	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 33	PMID:25741868
12056266	TMEM187	transmembrane protein 187	gene	DOID:10588	adrenoleukodystrophy		ISO	RGD:1354491	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Adrenoleukodystrophy	PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:35384376|PMID:9384614
12056266	TMEM187	transmembrane protein 187	gene	DOID:11726	Emery-Dreifuss muscular dystrophy		ISO	RGD:1354491	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy | ClinVar Annotator: match by term: X-linked Emery-Dreifuss muscular dystrophy	PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:35384376|PMID:9384614
12056266	TMEM187	transmembrane protein 187	gene	DOID:12134	factor VIII deficiency		ISO	RGD:1354491	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Factor 8 deficiency, congenital	PMID:31690835
12056266	TMEM187	transmembrane protein 187	gene	DOID:12849	autistic disorder		ISO	RGD:1354491	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
12056266	TMEM187	transmembrane protein 187	gene	DOID:13628	favism		ISO	RGD:1354491	D	RGD:8554872	20240716	ClinVar		ClinVar Annotator: match by term: Anemia, nonspherocytic hemolytic, due to G6PD deficiency	PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:28492532|PMID:35384376|PMID:9384614
12056266	TMEM187	transmembrane protein 187	gene	DOID:2729	dyskeratosis congenita		ISO	RGD:1354491	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Dyskeratosis congenita	PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:22281021|PMID:22382802|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:28492532|PMID:35384376|PMID:9384614
12056266	TMEM187	transmembrane protein 187	gene	DOID:607	paraplegia		ISO	RGD:1354491	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Spastic paraplegia	PMID:10480214|PMID:11379875|PMID:11748843|PMID:11968085|PMID:16427346|PMID:16601897|PMID:16684786|PMID:18177777|PMID:18627054|PMID:19396829|PMID:19846429|PMID:20730588|PMID:22281021|PMID:22382802|PMID:23184456|PMID:23409742|PMID:23660394|PMID:24365856|PMID:24962355|PMID:26471271|PMID:28492532|PMID:29334594|PMID:35384376|PMID:9384614
12056266	TMEM187	transmembrane protein 187	gene	DOID:9002720	Splenomegaly		ISO	RGD:1354491	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Splenomegaly	PMID:25741868
12056266	TMEM187	transmembrane protein 187	gene	DOID:9005082	Periventricular Nodular Heterotopia 4		ISO	RGD:1354491	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: PERIVENTRICULAR NODULAR HETEROTOPIA 4	PMID:15689435|PMID:16080119|PMID:28492532
12056266	TMEM187	transmembrane protein 187	gene	DOID:9005190	Juberg Hayward Syndrome		ISO	RGD:1354491	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Cranio-oro-digital syndrome	PMID:15689435|PMID:16080119|PMID:28492532
12056266	TMEM187	transmembrane protein 187	gene	DOID:9005521	Chromosome Xq28 Duplication Syndrome		ISO	RGD:1354491	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Chromosome Xq28 duplication syndrome	
12056285	IPO8	importin 8	gene	DOID:630	genetic disease		ISO	RGD:1343350	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868
12056285	IPO8	importin 8	gene	DOID:9004471	VISS syndrome		ISO	RGD:1343350	D	RGD:7240710	20211027	OMIM			
12056285	IPO8	importin 8	gene	DOID:9004471	VISS syndrome		ISO	RGD:1343350	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: IPO8-related aortopathy | ClinVar Annotator: match by term: IPO8-related condition | ClinVar Annotator: match by term: VISS syndrome	PMID:16199547|PMID:25741868|PMID:28492532|PMID:33875846|PMID:34010604|PMID:34010605
12056316	HAPSTR1	HUWE1 associated protein modifying stress responses	gene	DOID:0060174	GABA aminotransferase deficiency		ISO	RGD:1606021	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Gamma-aminobutyric acid transaminase deficiency	PMID:28492532
12056316	HAPSTR1	HUWE1 associated protein modifying stress responses	gene	DOID:0110151	Charcot-Marie-Tooth disease type 1C		ISO	RGD:1606021	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C	PMID:28492532
12056316	HAPSTR1	HUWE1 associated protein modifying stress responses	gene	DOID:2538	Landau-Kleffner syndrome		ISO	RGD:1606021	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Landau-Kleffner syndrome	PMID:28492532|PMID:29961510
12056316	HAPSTR1	HUWE1 associated protein modifying stress responses	gene	DOID:5812	MHC class II deficiency		ISO	RGD:1606021	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: MHC class II deficiency	PMID:28492532
12056325	RNASE13	ribonuclease A family member 13 (inactive)	gene	DOID:5813	purine nucleoside phosphorylase deficiency		ISO	RGD:1344390	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency	PMID:24767876|PMID:28492532
12056325	RNASE13	ribonuclease A family member 13 (inactive)	gene	DOID:9004758	Brain-Lung-Thyroid Syndrome		ISO	RGD:1344390	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Brain-lung-thyroid syndrome	PMID:25741868
12056331	HOPX	HOP homeobox	gene	DOID:0070263	congenital disorder of glycosylation type IIk		ISO	RGD:1603377	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: TMEM165-CDG	PMID:28492532
12056331	HOPX	HOP homeobox	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1603377	D	RGD:9068941	20230824	RGD		mRNA:decreased expression:left ventricle	PMID:12920479|REF_RGD_ID:401793745
12056331	HOPX	HOP homeobox	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:1603377	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25380136
12056331	HOPX	HOP homeobox	gene	DOID:9253	gastrointestinal stromal tumor		ISO	RGD:1603377	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Gastrointestinal stromal tumor	PMID:1279971|PMID:15194144|PMID:1720553|PMID:28492532|PMID:7529964
12056348	MIR193B	microRNA mir-193b	gene	DOID:0050860	colorectal adenoma	disease_progression	ISO	RGD:1603767	D	RGD:9068941	20220825	RGD		RNA:decreased expression:blood plasma (human)	PMID:29226653|REF_RGD_ID:153344556
12056348	MIR193B	microRNA mir-193b	gene	DOID:0080685	aortic dissection	treatment	ISO	RGD:2314108	D	RGD:9068941	20230223	RGD			PMID:33403385|REF_RGD_ID:156420156
12056348	MIR193B	microRNA mir-193b	gene	DOID:0110848	xeroderma pigmentosum group F		ISO	RGD:1603767	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Xeroderma pigmentosum, group F	PMID:28492532
12056348	MIR193B	microRNA mir-193b	gene	DOID:10534	stomach cancer	disease_progression	ISO	RGD:1603767	D	RGD:9068941	20220825	RGD		RNA:decreased expression:stomach (human)	PMID:27071318|REF_RGD_ID:153344555
12056348	MIR193B	microRNA mir-193b	gene	DOID:10534	stomach cancer	exacerbates	ISO	RGD:1603767	D	RGD:9068941	20220825	RGD		RNA:decreased expression:stomach (human)	PMID:25374225|REF_RGD_ID:153344565
12056348	MIR193B	microRNA mir-193b	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1603767	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35764155
12056348	MIR193B	microRNA mir-193b	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:1603767	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28545106
12056348	MIR193B	microRNA mir-193b	gene	DOID:2043	hepatitis B		ISO	RGD:1603767	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28545106
12056348	MIR193B	microRNA mir-193b	gene	DOID:6000	congestive heart failure		ISO	RGD:1603767	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:36071497
12056348	MIR193B	microRNA mir-193b	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1603767	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28545106
12056348	MIR193B	microRNA mir-193b	gene	DOID:9256	colorectal cancer		ISO	RGD:1603767	D	RGD:9068941	20220825	RGD		RNA:decreased expression:blood plasma (human)	PMID:29226653|REF_RGD_ID:153344556
12056386	RPS2	ribosomal protein S2	gene	DOID:0060224	atrial fibrillation		ISO	RGD:732314	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:29892015
12056386	RPS2	ribosomal protein S2	gene	DOID:0080325	tuberous sclerosis 2		ISO	RGD:732314	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Tuberous sclerosis 2	PMID:10205261|PMID:16114042|PMID:17287951|PMID:17304050|PMID:20498439|PMID:25741868|PMID:28492532|PMID:29932062
12056386	RPS2	ribosomal protein S2	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:732314	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1	PMID:28492532|PMID:30866059
12056386	RPS2	ribosomal protein S2	gene	DOID:0110097	short-rib thoracic dysplasia 9 with or without polydactyly		ISO	RGD:732314	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Saldino-Mainzer syndrome	PMID:28492532
12056386	RPS2	ribosomal protein S2	gene	DOID:1826	epilepsy		ISO	RGD:732314	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Epilepsy	PMID:28492532
12056386	RPS2	ribosomal protein S2	gene	DOID:1827	idiopathic generalized epilepsy		ISO	RGD:732314	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Idiopathic generalized epilepsy	PMID:28492532
12056386	RPS2	ribosomal protein S2	gene	DOID:9002669	Hypoxia		ISO	RGD:732314	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18258771
12056405	PRSS8	serine protease 8	gene	DOID:0060713	autosomal recessive congenital ichthyosis 4B		ISO	RGD:730926	D	RGD:9068941	20220825	MouseDO		OMIM:242500	
12056405	PRSS8	serine protease 8	gene	DOID:0080074	neural tube defect		ISO	RGD:730925	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24722141
12056405	PRSS8	serine protease 8	gene	DOID:0090126	branched-chain keto acid dehydrogenase kinase deficiency		ISO	RGD:730925	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency	PMID:25741868
12056405	PRSS8	serine protease 8	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:730925	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant	PMID:28492532
12056405	PRSS8	serine protease 8	gene	DOID:2394	ovarian cancer		ISO	RGD:730925	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:11584061|REF_RGD_ID:2292486
12056405	PRSS8	serine protease 8	gene	DOID:3459	breast carcinoma		ISO	RGD:730925	D	RGD:9068941	20200609	RGD			PMID:11774283|REF_RGD_ID:2292485
12056405	PRSS8	serine protease 8	gene	DOID:37	skin disease		ISO	RGD:730925	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22705055
12056405	PRSS8	serine protease 8	gene	DOID:780	placenta disease		ISO	RGD:730925	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24722141
12056405	PRSS8	serine protease 8	gene	DOID:8634	prostate carcinoma in situ	disease_progression	ISO	RGD:730925	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:prostate gland	PMID:12518323|REF_RGD_ID:2292484
12056405	PRSS8	serine protease 8	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:730925	D	RGD:9068941	20200609	RGD		associated with Prostatic Neoplasms;mRNA:decreased expression:prostate gland, bone	PMID:12518323|REF_RGD_ID:2292484
12056405	PRSS8	serine protease 8	gene	DOID:9001984	Fetal Diseases		ISO	RGD:730925	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22705055
12056405	PRSS8	serine protease 8	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:730925	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16541421
12056405	PRSS8	serine protease 8	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:730925	D	RGD:9068941	20200609	RGD		mRNA:increased expression:prostate gland	PMID:12518323|REF_RGD_ID:2292484
12056405	PRSS8	serine protease 8	gene	DOID:9002304	Prostatic Neoplasms	disease_progression	ISO	RGD:730925	D	RGD:9068941	20200609	RGD		mRNA:increased expression:blood	PMID:11173941|REF_RGD_ID:2292487
12056405	PRSS8	serine protease 8	gene	DOID:9007023	Prenatal Injuries		ISO	RGD:730925	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:24722141
12056405	PRSS8	serine protease 8	gene	DOID:987	alopecia		ISO	RGD:619973	D	RGD:9068941	20211022	RGD		DNA:deletion:cds:exon 3 (rat)	PMID:20201958|REF_RGD_ID:150520038
12056433	HSPA12B	heat shock protein family A (Hsp70) member 12B	gene	DOID:0090103	Huntington's disease-like 1		ISO	RGD:1323758	D	RGD:8554872	20230314	ClinVar		ClinVar Annotator: match by term: Huntington disease-like 1	PMID:28492532
12056433	HSPA12B	heat shock protein family A (Hsp70) member 12B	gene	DOID:3981	pantothenate kinase-associated neurodegeneration		ISO	RGD:1323758	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Pigmentary pallidal degeneration	PMID:28492532
12056433	HSPA12B	heat shock protein family A (Hsp70) member 12B	gene	DOID:9004174	Inosine Triphosphatase Deficiency		ISO	RGD:1323758	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Inosine triphosphatase deficiency	PMID:26224535|PMID:28492532|PMID:34989426
12056462	CCS	copper chaperone for superoxide dismutase	gene	DOID:1059	intellectual disability		ISO	RGD:733606	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12056462	CCS	copper chaperone for superoxide dismutase	gene	DOID:1289	neurodegenerative disease		ISO	RGD:733606	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: neurodegenerative disorder	PMID:22243965|PMID:22508683
12056462	CCS	copper chaperone for superoxide dismutase	gene	DOID:332	amyotrophic lateral sclerosis	treatment	ISO	RGD:733606	D	RGD:9068941	20200609	RGD			PMID:26826269|REF_RGD_ID:13524551
12056462	CCS	copper chaperone for superoxide dismutase	gene	DOID:5113	nutritional deficiency disease		ISO	RGD:733606	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12514262
12056462	CCS	copper chaperone for superoxide dismutase	gene	DOID:9003840	Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations		ISO	RGD:733606	D	RGD:8554872	20230314	ClinVar		ClinVar Annotator: match by term: Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations	PMID:28492532
12056462	CCS	copper chaperone for superoxide dismutase	gene	DOID:9008004	Aicardi-Goutieres Syndrome 3		ISO	RGD:733606	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3	PMID:28492532
12056462	CCS	copper chaperone for superoxide dismutase	gene	DOID:9008510	Chronic Hepatitis		ISO	RGD:733606	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25053573
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:0050427	xeroderma pigmentosum		ISO	RGD:1316156	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Xeroderma pigmentosum	PMID:16199547|PMID:16550608|PMID:16947863|PMID:17576681|PMID:24728327|PMID:25741868|PMID:25910212|PMID:26023681|PMID:26556299|PMID:27004399|PMID:27153395|PMID:27356891|PMID:27655433|PMID:28259476|PMID:28423363|PMID:28492532|PMID:28873162|PMID:29478780|PMID:29625052|PMID:30256826|PMID:30262796|PMID:30306255|PMID:30414346|PMID:30787465|PMID:31541171|PMID:31664448|PMID:31681265|PMID:31874108|PMID:32183364|PMID:32295625|PMID:32427313|PMID:32496904|PMID:33332384|PMID:33780288|PMID:34308104|PMID:8304337|PMID:9536098
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:0110288	autosomal recessive limb-girdle muscular dystrophy type 2W		ISO	RGD:1316156	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2W	PMID:28492532
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:0110850	xeroderma pigmentosum group B		ISO	RGD:1316156	D	RGD:7240710	20180130	OMIM			
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:0110850	xeroderma pigmentosum group B		ISO	RGD:1316156	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Xeroderma pigmentosum group B	PMID:16947863|PMID:2167179|PMID:24728327|PMID:25741868|PMID:26023681|PMID:26467025|PMID:26556299|PMID:26884178|PMID:27004399|PMID:27153395|PMID:27356891|PMID:27655433|PMID:28259476|PMID:28423363|PMID:28492532|PMID:28873162|PMID:29376097|PMID:29478780|PMID:29625052|PMID:30256826|PMID:30306255|PMID:30414346|PMID:30787465|PMID:31541171|PMID:31664448|PMID:31681265|PMID:31874108|PMID:32183364|PMID:32295625|PMID:32496904|PMID:33332384|PMID:34308104|PMID:4811796|PMID:8304337|PMID:8408834|PMID:8663148
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:0111220	centronuclear myopathy 2		ISO	RGD:1316156	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Myopathy, centronuclear, 2	PMID:28492532
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:0111866	trichothiodystrophy		ISO	RGD:1316156	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:p.T119P (human)	PMID:9012405|REF_RGD_ID:13207496
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:0111869	photosensitive trichothiodystrophy 2		ISO	RGD:1316156	D	RGD:7240710	20180130	OMIM			
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:0111869	photosensitive trichothiodystrophy 2		ISO	RGD:1316156	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: ERCC3-related condition | ClinVar Annotator: match by term: Trichothiodystrophy 2, photosensitive	PMID:16947863|PMID:24728327|PMID:25741868|PMID:26023681|PMID:26556299|PMID:26884178|PMID:27004399|PMID:27153395|PMID:27356891|PMID:27655433|PMID:28259476|PMID:28423363|PMID:28492532|PMID:28873162|PMID:29376097|PMID:29478780|PMID:29625052|PMID:30306255|PMID:30414346|PMID:30787465|PMID:31664448|PMID:31874108|PMID:32183364|PMID:32295625|PMID:32496904|PMID:9012405
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:0111909	autosomal dominant thrombophilia due to protein C deficiency		ISO	RGD:1316156	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Thrombophilia due to protein C deficiency, autosomal dominant	PMID:17152060|PMID:28492532|PMID:3185623
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:10652	Alzheimer's disease		ISO	RGD:1316156	D	RGD:9068941	20200609	RGD		protein:increased expression:brain	PMID:9714461|REF_RGD_ID:5688738
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:11088	asphyxia neonatorum		ISO	RGD:1307139	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:brain	PMID:9763211|REF_RGD_ID:2302855
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:14250	Down syndrome		ISO	RGD:1316156	D	RGD:9068941	20200609	RGD		mRNA:increased expression:brain (human)	PMID:10328528|REF_RGD_ID:13207452
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:2394	ovarian cancer		ISO	RGD:1316156	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Ovarian cancer	PMID:25741868|PMID:28492532
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:2962	Cockayne syndrome		ISO	RGD:1316156	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME	PMID:16947863|PMID:24728327|PMID:25741868|PMID:26023681|PMID:27004399|PMID:27153395|PMID:27356891|PMID:27655433|PMID:28492532|PMID:28873162|PMID:29478780|PMID:29625052|PMID:30414346|PMID:30787465
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:3908	lung non-small cell carcinoma	treatment	ISO	RGD:1316156	D	RGD:9068941	20200609	RGD		DNA:snp:intron:c.2064+741T>C (rs3738948) (human)	PMID:25069034|REF_RGD_ID:11098167
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:574	peripheral nervous system disease		ISO	RGD:1316156	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20864405
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:630	genetic disease		ISO	RGD:1316156	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:16550608|PMID:16947863|PMID:24728327|PMID:25741868|PMID:25910212|PMID:26884178|PMID:27153395|PMID:28259476|PMID:28492532|PMID:29376097|PMID:30306255|PMID:30414346|PMID:31664448|PMID:31874108|PMID:32295625
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:9005172	Lung Neoplasms	susceptibility	ISO	RGD:1316156	D	RGD:9068941	20200609	RGD		DNA:snps, haplotype:introns:c.43-61A>G, c.1151-2708A>G,  (rs2271026, rs4150441) (human)	PMID:16835333|REF_RGD_ID:13207447
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:9007964	Arsenic Poisoning		ISO	RGD:1316156	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:12569548
12056482	ERCC3	ERCC excision repair 3, TFIIH core complex helicase subunit	gene	DOID:9256	colorectal cancer		ISO	RGD:1316156	D	RGD:9068941	20221006	RGD		mRNA:increased expression:colorectum (human)	PMID:16951227|REF_RGD_ID:155260343
12056511	ILK	integrin linked kinase	gene	DOID:0050700	cardiomyopathy		ISO	RGD:732855	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardiomyopathies | ClinVar Annotator: match by term: Cardiomyopathy	PMID:24033266|PMID:25741868|PMID:28492532
12056511	ILK	integrin linked kinase	gene	DOID:0060118	thoracic disease		ISO	RGD:732855	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23045294
12056511	ILK	integrin linked kinase	gene	DOID:0080326	familial hypertrophic cardiomyopathy		ISO	RGD:732855	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary ventricular hypertrophy | ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	PMID:11402068|PMID:11694518|PMID:14745274|PMID:16199547|PMID:17576681|PMID:24033266|PMID:25163546|PMID:25741868|PMID:26656175|PMID:28492532|PMID:29915097|PMID:30206291|PMID:31983221|PMID:33874732|PMID:34935411|PMID:9536098
12056511	ILK	integrin linked kinase	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:732855	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:24033266|PMID:28492532
12056511	ILK	integrin linked kinase	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:732855	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1 | ClinVar Annotator: match by term: Idiopathic hypertrophic subaortic stenosis	PMID:24033266|PMID:25741868|PMID:28492532|PMID:29915097|PMID:33874732
12056511	ILK	integrin linked kinase	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:732855	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:tumor:lower in high versus low Gleason score tumors (p<0.05 compared to at least one housekeeping gene)	PMID:18336616|REF_RGD_ID:2301729
12056511	ILK	integrin linked kinase	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:732855	D	RGD:9068941	20200609	RGD		protein:decreased expression:tumor:significantly lower in benign prostatic hyperplasia then any prostate cancer (p<0.01), gradient of expression from BPH to poorly differentiated C+D stage neoplasms	PMID:15704679|REF_RGD_ID:2301731
12056511	ILK	integrin linked kinase	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:732855	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Primary dilated cardiomyopathy	
12056511	ILK	integrin linked kinase	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:732855	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	PMID:28492532
12056511	ILK	integrin linked kinase	gene	DOID:1790	malignant mesothelioma		ISO	RGD:732855	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:23045294
12056511	ILK	integrin linked kinase	gene	DOID:1793	pancreatic cancer		ISO	RGD:732855	D	RGD:9068941	20200609	RGD		DNA:mutations:exon	PMID:18772397|REF_RGD_ID:5490966
12056511	ILK	integrin linked kinase	gene	DOID:1826	epilepsy		ISO	RGD:732855	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: therapeutic	PMID:20064661
12056511	ILK	integrin linked kinase	gene	DOID:224	transient cerebral ischemia		ISO	RGD:732855	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15472100
12056511	ILK	integrin linked kinase	gene	DOID:2394	ovarian cancer	severity	ISO	RGD:732855	D	RGD:9068941	20200609	RGD		protein:increased expression:ovary, surface of epithelium (human)	PMID:14517840|REF_RGD_ID:13441558
12056511	ILK	integrin linked kinase	gene	DOID:2526	prostate adenocarcinoma	disease_progression	ISO	RGD:732855	D	RGD:9068941	20200609	RGD		protein:increased expression:tumor: high-grade tumors versus adjacent BHP (P<0.001), BHP from cancer-free patients (P<0.002), or low-grade tumors (P=0.003), also associated with proliferative index (P=0.001), but inversely related to 5-year survival (p=0.004)	PMID:11448915|REF_RGD_ID:2301734
12056511	ILK	integrin linked kinase	gene	DOID:2843	long QT syndrome		ISO	RGD:732855	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:28492532
12056511	ILK	integrin linked kinase	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:732855	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16941698
12056511	ILK	integrin linked kinase	gene	DOID:9004271	Colonic Polyps		ISO	RGD:732855	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:11593435
12056511	ILK	integrin linked kinase	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:732855	D	RGD:9068941	20200609	RGD		late onset development of tumors in transgenic mice overexpressing human ILK in mammary glands	PMID:11704830|REF_RGD_ID:2301733
12056511	ILK	integrin linked kinase	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:732855	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18702665|PMID:19629758
12056528	SNRK	SNF related kinase	gene	DOID:0111231	congenital muscular dystrophy-dystroglycanopathy type A8		ISO	RGD:735399	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8	PMID:28492532
12056569	SSB	small RNA binding exonuclease protection factor La	gene	DOID:0080600	COVID-19		ISO	RGD:1348902	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
12056585	DNAAF1	dynein axonemal assembly factor 1	gene	DOID:0050144	Kartagener syndrome		ISO	RGD:1606172	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Kartagener syndrome	PMID:19944400|PMID:19944405|PMID:28492532
12056585	DNAAF1	dynein axonemal assembly factor 1	gene	DOID:0050545	visceral heterotaxy		ISO	RGD:1606172	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Situs ambiguus	PMID:16199547|PMID:19944400|PMID:19944405|PMID:24033266|PMID:25158045|PMID:25741868|PMID:27884173|PMID:28492532
12056585	DNAAF1	dynein axonemal assembly factor 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1606172	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12056585	DNAAF1	dynein axonemal assembly factor 1	gene	DOID:0110618	primary ciliary dyskinesia 13		ISO	RGD:1606172	D	RGD:7240710	20190315	OMIM			
12056585	DNAAF1	dynein axonemal assembly factor 1	gene	DOID:0110618	primary ciliary dyskinesia 13		ISO	RGD:1606172	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: DNAAF1-related condition | ClinVar Annotator: match by term: Primary ciliary dyskinesia 13	PMID:16199547|PMID:17576681|PMID:19944400|PMID:19944405|PMID:22499950|PMID:23599692|PMID:24033266|PMID:24498942|PMID:25158045|PMID:25741868|PMID:27543293|PMID:27884173|PMID:28492532|PMID:9536098
12056585	DNAAF1	dynein axonemal assembly factor 1	gene	DOID:0110622	primary ciliary dyskinesia 9		ISO	RGD:1606172	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Respiratory ciliopathies including non-CF bronchiectasis	PMID:19944400|PMID:19944405|PMID:25741868|PMID:28492532
12056585	DNAAF1	dynein axonemal assembly factor 1	gene	DOID:13042	persistent fetal circulation syndrome		ISO	RGD:1606172	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital alveolar capillary dysplasia	
12056585	DNAAF1	dynein axonemal assembly factor 1	gene	DOID:758	situs inversus		ISO	RGD:1606172	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Laterality sequence	PMID:16199547|PMID:19944400|PMID:19944405|PMID:24033266|PMID:25158045|PMID:25741868|PMID:27884173|PMID:28492532
12056585	DNAAF1	dynein axonemal assembly factor 1	gene	DOID:9562	primary ciliary dyskinesia		ISO	RGD:1606172	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: Primary ciliary dyskinesia	PMID:16199547|PMID:17576681|PMID:19944400|PMID:19944405|PMID:22499950|PMID:23599692|PMID:24033266|PMID:24307375|PMID:24498942|PMID:25158045|PMID:25741868|PMID:26633542|PMID:27543293|PMID:27884173|PMID:28492532|PMID:28991257|PMID:29228333|PMID:30067075|PMID:34556108|PMID:9536098
12056601	PAXX	PAXX non-homologous end joining factor	gene	DOID:0060352	Kleefstra syndrome 1		ISO	RGD:1606404	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Kleefstra syndrome 1	PMID:19264732|PMID:22318994|PMID:22890305|PMID:25741868|PMID:27891178|PMID:28492532|PMID:31209758
12056601	PAXX	PAXX non-homologous end joining factor	gene	DOID:0060686	autosomal dominant nocturnal frontal lobe epilepsy 5		ISO	RGD:1606404	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 5	PMID:28492532
12056601	PAXX	PAXX non-homologous end joining factor	gene	DOID:0070038	autosomal dominant intellectual developmental disorder 8		ISO	RGD:1606404	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant	PMID:28492532
12056601	PAXX	PAXX non-homologous end joining factor	gene	DOID:0070244	primary coenzyme Q10 deficiency 7		ISO	RGD:1606404	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	PMID:28492532
12056601	PAXX	PAXX non-homologous end joining factor	gene	DOID:0080324	tuberous sclerosis 1		ISO	RGD:1606404	D	RGD:8554872	20230314	ClinVar		ClinVar Annotator: match by term: Tuberous sclerosis 1	PMID:28492532
12056601	PAXX	PAXX non-homologous end joining factor	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1606404	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:19264732|PMID:27891178|PMID:28492532
12056601	PAXX	PAXX non-homologous end joining factor	gene	DOID:0080439	developmental and epileptic encephalopathy 14		ISO	RGD:1606404	D	RGD:8554872	20230314	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 14 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14	PMID:16025100|PMID:19264732|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:27891178|PMID:28125082|PMID:28492532
12056601	PAXX	PAXX non-homologous end joining factor	gene	DOID:0081097	Rafiq syndrome		ISO	RGD:1606404	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Rafiq syndrome	PMID:24566669|PMID:28492532|PMID:30982612
12056601	PAXX	PAXX non-homologous end joining factor	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:1606404	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis	PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532
12056601	PAXX	PAXX non-homologous end joining factor	gene	DOID:1826	epilepsy		ISO	RGD:1606404	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Epilepsy	
12056601	PAXX	PAXX non-homologous end joining factor	gene	DOID:3652	Leigh disease		ISO	RGD:1606404	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Leigh syndrome	PMID:28492532
12056601	PAXX	PAXX non-homologous end joining factor	gene	DOID:9005781	Adams-Oliver Syndrome 5		ISO	RGD:1606404	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Adams-Oliver syndrome 5	PMID:16025100|PMID:19597493|PMID:19668216|PMID:21457232|PMID:22318994|PMID:23034536|PMID:23386033|PMID:25132448|PMID:25516202|PMID:25963545|PMID:26820064|PMID:28125082|PMID:28492532
12056629	OSBPL5	oxysterol binding protein like 5	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:1318150	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy	PMID:28492532
12056629	OSBPL5	oxysterol binding protein like 5	gene	DOID:0080773	delta beta-thalassemia		ISO	RGD:1318150	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Thalassemia, gamma-delta-beta	PMID:2798417
12056629	OSBPL5	oxysterol binding protein like 5	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:1318150	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:28492532
12056655	MPV17L2	MPV17 mitochondrial inner membrane protein like 2	gene	DOID:9009086	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1		ISO	RGD:1603190	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	PMID:28492532
12056669	IRS2	insulin receptor substrate 2	gene	DOID:0050902	medulloblastoma		ISO	RGD:736204	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19270706
12056669	IRS2	insulin receptor substrate 2	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:69316	D	RGD:9068941	20200609	RGD			PMID:20846698|REF_RGD_ID:6483014
12056669	IRS2	insulin receptor substrate 2	gene	DOID:0111099	maturity-onset diabetes of the young type 1		ISO	RGD:736204	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:10525667|PMID:11030756|PMID:11473060|PMID:11600548|PMID:25741868
12056669	IRS2	insulin receptor substrate 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:736205	D	RGD:9068941	20200609	RGD			PMID:19487308|REF_RGD_ID:10045878
12056669	IRS2	insulin receptor substrate 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:736205	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:hippocampus:	PMID:24887203|REF_RGD_ID:10045934
12056669	IRS2	insulin receptor substrate 2	gene	DOID:10652	Alzheimer's disease	severity	ISO	RGD:736204	D	RGD:9068941	20200609	RGD		protein:decreased expression:temporal cortex:	PMID:18479783|REF_RGD_ID:10045894
12056669	IRS2	insulin receptor substrate 2	gene	DOID:11476	osteoporosis		ISO	RGD:69316	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Type 2; protein:decreased expression:liver,kidney, muscle:	PMID:22820932|REF_RGD_ID:7207063
12056669	IRS2	insulin receptor substrate 2	gene	DOID:2222	factor X deficiency		ISO	RGD:736204	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Factor X deficiency	PMID:25741868|PMID:34355501
12056669	IRS2	insulin receptor substrate 2	gene	DOID:4195	hyperglycemia		ISO	RGD:736204	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20028942|PMID:25808216
12056669	IRS2	insulin receptor substrate 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:736204	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16127164
12056669	IRS2	insulin receptor substrate 2	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:736204	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16367923
12056669	IRS2	insulin receptor substrate 2	gene	DOID:9002165	Diabetic Nephropathies		ISO	RGD:736204	D	RGD:9068941	20200609	RGD		mRNA:increased expression:kidney tubule:	PMID:23617393|REF_RGD_ID:7257702
12056669	IRS2	insulin receptor substrate 2	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:69316	D	RGD:9068941	20200609	RGD			PMID:20720385|REF_RGD_ID:7257699
12056669	IRS2	insulin receptor substrate 2	gene	DOID:9002979	Anal Atresia, Hypospadias, and Penoscrotal Inversion		ISO	RGD:736204	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Anal atresia, hypospadias, and penoscrotal inversion	PMID:31690835
12056669	IRS2	insulin receptor substrate 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:69316	D	RGD:9068941	20200609	RGD		protein:decreased phosphorylation:heart	PMID:20555424|REF_RGD_ID:4142788
12056669	IRS2	insulin receptor substrate 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:736204	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25808216
12056669	IRS2	insulin receptor substrate 2	gene	DOID:9006646	Metabolic Syndrome	ameliorates	ISO	RGD:736205	D	RGD:9068941	20231026	RGD			PMID:31353547|REF_RGD_ID:401850595
12056669	IRS2	insulin receptor substrate 2	gene	DOID:9007692	Insulin Resistance		ISO	RGD:736204	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25808216
12056669	IRS2	insulin receptor substrate 2	gene	DOID:9007692	Insulin Resistance		ISO	RGD:736204	D	RGD:9068941	20200609	RGD		DNA:polymorphism:exon:G1057D	PMID:15811564|REF_RGD_ID:1625025
12056669	IRS2	insulin receptor substrate 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736204	D	RGD:7240710	20180130	OMIM			
12056669	IRS2	insulin receptor substrate 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:736204	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: IRS2-related condition | ClinVar Annotator: match by term: Type 2 diabetes mellitus	PMID:10525667|PMID:11030756|PMID:11473060|PMID:11600548|PMID:25741868|PMID:28492532
12056675	FAM13A	family with sequence similarity 13 member A	gene	DOID:0050156	idiopathic pulmonary fibrosis		ISO	RGD:1320343	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Fibrocystic pulmonary dysplasia	
12056675	FAM13A	family with sequence similarity 13 member A	gene	DOID:0060971	interstitial lung disease 2		ISO	RGD:1320343	D	RGD:8554872	20240702	ClinVar		ClinVar Annotator: match by term: Interstitial lung disease 2	
12056675	FAM13A	family with sequence similarity 13 member A	gene	DOID:0110859	polycystic kidney disease 2		ISO	RGD:1320343	D	RGD:8554872	20220906	ClinVar		ClinVar Annotator: match by term: Polycystic kidney disease 2	PMID:25741868
12056675	FAM13A	family with sequence similarity 13 member A	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:1320343	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Squamous cell carcinoma	PMID:27993330
12056675	FAM13A	family with sequence similarity 13 member A	gene	DOID:3083	chronic obstructive pulmonary disease		ISO	RGD:1320343	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Chronic obstructive pulmonary disease	
12056675	FAM13A	family with sequence similarity 13 member A	gene	DOID:3083	chronic obstructive pulmonary disease	susceptibility	ISO	RGD:1320343	D	RGD:9068941	20200609	RGD		DNA:SNP: :rs7671167 (human)	PMID:25928290|REF_RGD_ID:11552597
12056675	FAM13A	family with sequence similarity 13 member A	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:1320343	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28166215
12056675	FAM13A	family with sequence similarity 13 member A	gene	DOID:898	autosomal dominant polycystic kidney disease		ISO	RGD:1320343	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autosomal dominant polycystic kidney disease	PMID:25741868
12056711	TPPP	tubulin polymerization promoting protein	gene	DOID:0060971	interstitial lung disease 2		ISO	RGD:1605400	D	RGD:8554872	20240702	ClinVar		ClinVar Annotator: match by term: Interstitial lung disease 2	PMID:12629597|PMID:28492532
12056711	TPPP	tubulin polymerization promoting protein	gene	DOID:0070016	autosomal dominant dyskeratosis congenita 2		ISO	RGD:1605400	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Dyskeratosis congenita, autosomal dominant 2	PMID:12629597|PMID:16247010|PMID:17460043|PMID:28492532
12056711	TPPP	tubulin polymerization promoting protein	gene	DOID:0070487	dopamine transporter deficiency syndrome		ISO	RGD:1605400	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Parkinsonism-dystonia, infantile	PMID:21112253|PMID:28492532
12056711	TPPP	tubulin polymerization promoting protein	gene	DOID:0080600	COVID-19		ISO	RGD:1605400	D	RGD:9068941	20200626	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12056718	ZNF592	zinc finger protein 592	gene	DOID:0060364	Galloway-Mowat syndrome 1		ISO	RGD:1318632	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Galloway-Mowat syndrome 1	PMID:12030328|PMID:20531441|PMID:25741868|PMID:26123727
12056718	ZNF592	zinc finger protein 592	gene	DOID:0080694	Galloway-Mowat syndrome		ISO	RGD:1318632	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20531441
12056718	ZNF592	zinc finger protein 592	gene	DOID:10487	Hirschsprung's disease		ISO	RGD:1318632	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Aganglionic megacolon	
12056718	ZNF592	zinc finger protein 592	gene	DOID:2717	Bloom syndrome		ISO	RGD:1318632	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Bloom syndrome	PMID:28492532
12056718	ZNF592	zinc finger protein 592	gene	DOID:3312	bipolar disorder		ISO	RGD:1318632	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31043756
12056718	ZNF592	zinc finger protein 592	gene	DOID:9256	colorectal cancer		ISO	RGD:1318632	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Familial colorectal cancer	PMID:28492532
12056737	LGI2	leucine rich repeat LGI family member 2	gene	DOID:1826	epilepsy		IAGP		D	RGD:12801476	20230823	OMIA		Epilepsy, benign familial juvenile, LGI2-related	PMID:17552452|PMID:21829378|PMID:23683021|PMID:24070682|PMID:26931499|PMID:25945683|PMID:37582787
12056752	KCNAB2	potassium voltage-gated channel subfamily A regulatory beta subunit 2	gene	DOID:0060410	chromosome 1p36 deletion syndrome		ISO	RGD:1354203	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome	
12056752	KCNAB2	potassium voltage-gated channel subfamily A regulatory beta subunit 2	gene	DOID:12712	nephronophthisis		ISO	RGD:1354203	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Nephronophthisis	PMID:28492532
12056752	KCNAB2	potassium voltage-gated channel subfamily A regulatory beta subunit 2	gene	DOID:1826	epilepsy		ISO	RGD:1354203	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizures	
12056752	KCNAB2	potassium voltage-gated channel subfamily A regulatory beta subunit 2	gene	DOID:630	genetic disease		ISO	RGD:1354203	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12056752	KCNAB2	potassium voltage-gated channel subfamily A regulatory beta subunit 2	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1354203	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12056784	PKD1L2	polycystin 1 like 2	gene	DOID:0060923	otosclerosis 4		ISO	RGD:1343423	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Otosclerosis 4	PMID:25741868
12056784	PKD1L2	polycystin 1 like 2	gene	DOID:0080468	developmental and epileptic encephalopathy 1		ISO	RGD:1343423	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 1	PMID:28492532|PMID:31780880
12056784	PKD1L2	polycystin 1 like 2	gene	DOID:0090064	familial cold autoinflammatory syndrome 3		ISO	RGD:1343423	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 3	PMID:28492532
12056784	PKD1L2	polycystin 1 like 2	gene	DOID:0090068	giant axonal neuropathy 1		ISO	RGD:1343423	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Giant axonal neuropathy 1	PMID:28492532
12056784	PKD1L2	polycystin 1 like 2	gene	DOID:2843	long QT syndrome		ISO	RGD:1343423	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:26132555
12056784	PKD1L2	polycystin 1 like 2	gene	DOID:9006754	Marfanoid Mental Retardation Syndrome, Autosomal		ISO	RGD:1343423	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Marfanoid habitus and intellectual disability	PMID:25741868
12056828	RUSF1	RUS family member 1	gene	DOID:0070613	familial renal glucosuria		ISO	RGD:1601979	D	RGD:8554872	20241001	ClinVar		ClinVar Annotator: match by term: Familial renal glucosuria | ClinVar Annotator: match by term: SLC5A2-related condition	PMID:14569097|PMID:14614622|PMID:15110322|PMID:18622023|PMID:25741868|PMID:28492532
12056828	RUSF1	RUS family member 1	gene	DOID:0090126	branched-chain keto acid dehydrogenase kinase deficiency		ISO	RGD:1601979	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Branched-chain keto acid dehydrogenase kinase deficiency	PMID:25741868
12056828	RUSF1	RUS family member 1	gene	DOID:630	genetic disease		ISO	RGD:1601979	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12056864	ADAP1	ArfGAP with dual PH domains 1	gene	DOID:0050589	inflammatory bowel disease		ISO	RGD:733651	D	RGD:9068941	20230706	CTD		CTD Direct Evidence: marker/mechanism	PMID:37156999
12056879	CFAP74	cilia and flagella associated protein 74	gene	DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2		ISO	RGD:1604563	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2	PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594
12056879	CFAP74	cilia and flagella associated protein 74	gene	DOID:0060410	chromosome 1p36 deletion syndrome		ISO	RGD:1604563	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome	
12056879	CFAP74	cilia and flagella associated protein 74	gene	DOID:0060481	Goldberg-Shprintzen syndrome		ISO	RGD:1604563	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome	PMID:23892090|PMID:28492532|PMID:31602316
12056879	CFAP74	cilia and flagella associated protein 74	gene	DOID:0081157	dilated cardiomyopathy 1LL		ISO	RGD:1604563	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction 8	PMID:28492532
12056879	CFAP74	cilia and flagella associated protein 74	gene	DOID:0110657	congenital myasthenic syndrome 8		ISO	RGD:1604563	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome 8	PMID:24951643|PMID:28492532
12056879	CFAP74	cilia and flagella associated protein 74	gene	DOID:0110994	Joubert syndrome 25		ISO	RGD:1604563	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Joubert syndrome 25	PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594
12056879	CFAP74	cilia and flagella associated protein 74	gene	DOID:0111934	immunodeficiency 38		ISO	RGD:1604563	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594
12056879	CFAP74	cilia and flagella associated protein 74	gene	DOID:0111935	immunodeficiency 16		ISO	RGD:1604563	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency	PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594
12056879	CFAP74	cilia and flagella associated protein 74	gene	DOID:1827	idiopathic generalized epilepsy		ISO	RGD:1604563	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Idiopathic generalized epilepsy	PMID:28492532
12056879	CFAP74	cilia and flagella associated protein 74	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1604563	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12056879	CFAP74	cilia and flagella associated protein 74	gene	DOID:9005405	Primary Ciliary Dyskinesia 49		ISO	RGD:1604563	D	RGD:7240710	20230201	OMIM			
12056879	CFAP74	cilia and flagella associated protein 74	gene	DOID:9005405	Primary Ciliary Dyskinesia 49		ISO	RGD:1604563	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: CFAP74-related condition | ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 49, without situs inversus	PMID:25741868|PMID:32555313|PMID:36047773
12056879	CFAP74	cilia and flagella associated protein 74	gene	DOID:9007185	Shprintzen-Goldberg Craniosynostosis		ISO	RGD:1604563	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome	PMID:23892090|PMID:28492532|PMID:31602316
12056879	CFAP74	cilia and flagella associated protein 74	gene	DOID:9008179	Peroxisome Biogenesis Disorder, Complementation Group 7		ISO	RGD:1604563	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7	PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594
12056942	GPR22	G protein-coupled receptor 22	gene	DOID:0070261	congenital disorder of glycosylation type IIi		ISO	RGD:1321987	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: COG5-congenital disorder of glycosylation	PMID:23228021|PMID:28492532
12056942	GPR22	G protein-coupled receptor 22	gene	DOID:4852	pleomorphic xanthoastrocytoma		ISO	RGD:1321987	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma	PMID:28299358
12056961	CMPK2	cytidine/uridine monophosphate kinase 2	gene	DOID:2377	multiple sclerosis		ISO	RGD:1602074	D	RGD:9068941	20200609	RGD		mRNA:altered expression:PMN cell (human)	PMID:20136355|REF_RGD_ID:5133255
12056961	CMPK2	cytidine/uridine monophosphate kinase 2	gene	DOID:9009265	Idiopathic Basal Ganglia Calcification 10		ISO	RGD:1602074	D	RGD:7240710	20241218	OMIM			
12056961	CMPK2	cytidine/uridine monophosphate kinase 2	gene	DOID:9009265	Idiopathic Basal Ganglia Calcification 10		ISO	RGD:1602074	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 10, AUTOSOMAL RECESSIVE	PMID:36443312
12056974	TTC16	tetratricopeptide repeat domain 16	gene	DOID:0050709	early infantile epileptic encephalopathy		ISO	RGD:1321657	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Early infantile epileptic encephalopathy	PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935|PMID:34172529
12056974	TTC16	tetratricopeptide repeat domain 16	gene	DOID:0070244	primary coenzyme Q10 deficiency 7		ISO	RGD:1321657	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	PMID:22368301|PMID:25658047|PMID:28492532|PMID:31332438|PMID:33206935
12056974	TTC16	tetratricopeptide repeat domain 16	gene	DOID:0080437	developmental and epileptic encephalopathy 31A		ISO	RGD:1321657	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 31	PMID:18469812|PMID:20887364|PMID:22722545|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:34172529
12056974	TTC16	tetratricopeptide repeat domain 16	gene	DOID:0080571	congenital disorder of glycosylation Iu		ISO	RGD:1321657	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital disorder of glycosylation type 1u	PMID:23109149|PMID:28492532
12056974	TTC16	tetratricopeptide repeat domain 16	gene	DOID:0112202	developmental and epileptic encephalopathy		ISO	RGD:1321657	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Developmental and epileptic encephalopathy	PMID:18469812|PMID:20887364|PMID:22368301|PMID:22722545|PMID:25658047|PMID:26384463|PMID:26514728|PMID:26865513|PMID:28492532|PMID:29264391|PMID:31332438|PMID:33206935|PMID:34172529
12056974	TTC16	tetratricopeptide repeat domain 16	gene	DOID:5426	primary ovarian insufficiency		ISO	RGD:1321657	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Premature ovarian insufficiency	PMID:25741868
12056974	TTC16	tetratricopeptide repeat domain 16	gene	DOID:543	dystonia		ISO	RGD:1321657	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Dystonic disorder	PMID:28492532
12057010	DEXI	Dexi homolog	gene	DOID:0110151	Charcot-Marie-Tooth disease type 1C		ISO	RGD:1603056	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 1C	PMID:28492532
12057010	DEXI	Dexi homolog	gene	DOID:2538	Landau-Kleffner syndrome		ISO	RGD:1603056	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Landau-Kleffner syndrome	PMID:28492532
12057010	DEXI	Dexi homolog	gene	DOID:5812	MHC class II deficiency		ISO	RGD:1603056	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: MHC class II deficiency	PMID:26271388|PMID:27484032|PMID:28492532|PMID:8402893|PMID:9099848
12057036	CRELD2	cysteine rich with EGF like domains 2	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1603954	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:11391650|PMID:21984750|PMID:21984751|PMID:25255310
12057036	CRELD2	cysteine rich with EGF like domains 2	gene	DOID:0060437	chromosome 22q13 duplication syndrome		ISO	RGD:1603954	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Chromosome 22q13 duplication syndrome	PMID:31690835
12057036	CRELD2	cysteine rich with EGF like domains 2	gene	DOID:0080354	Phelan-McDermid syndrome		ISO	RGD:1603954	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Phelan-McDermid syndrome	
12057036	CRELD2	cysteine rich with EGF like domains 2	gene	DOID:0080559	congenital disorder of glycosylation Ig		ISO	RGD:1603954	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: ALG12-congenital disorder of glycosylation	PMID:15639192|PMID:28492532|PMID:31481313
12057036	CRELD2	cysteine rich with EGF like domains 2	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:1603954	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Metachromatic leukodystrophy	PMID:10477432|PMID:15211666|PMID:25344692|PMID:28492532|PMID:30057904|PMID:8962139
12057036	CRELD2	cysteine rich with EGF like domains 2	gene	DOID:1059	intellectual disability		ISO	RGD:1603954	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12057050	MIR34A	microRNA mir-34a	gene	DOID:0060410	chromosome 1p36 deletion syndrome		ISO	RGD:1343452	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome	
12057050	MIR34A	microRNA mir-34a	gene	DOID:0080208	metabolic dysfunction-associated steatotic liver disease		ISO	RGD:1343452	D	RGD:9068941	20200609	RGD		miRNA:increased expression:plasma	PMID:27077736|REF_RGD_ID:11533145
12057050	MIR34A	microRNA mir-34a	gene	DOID:10603	glucose intolerance		ISO	RGD:1343452	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23834033
12057050	MIR34A	microRNA mir-34a	gene	DOID:11294	arteriovenous malformation		ISO	RGD:1343452	D	RGD:9068941	20221013	RGD		miRNA:increased expression:blood plasma (human)	PMID:23051042|REF_RGD_ID:155582214
12057050	MIR34A	microRNA mir-34a	gene	DOID:114	heart disease		ISO	RGD:1343452	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25448438
12057050	MIR34A	microRNA mir-34a	gene	DOID:2030	anxiety disorder		ISO	RGD:1343452	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:27424985
12057050	MIR34A	microRNA mir-34a	gene	DOID:6000	congestive heart failure		ISO	RGD:2325584	D	RGD:9068941	20200609	RGD		RNA:increased expression:heart	PMID:29373037|REF_RGD_ID:26923905
12057050	MIR34A	microRNA mir-34a	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:1343452	D	RGD:9068941	20200609	RGD		miRNA:decreased expression:liver	PMID:29328457|REF_RGD_ID:14694836
12057050	MIR34A	microRNA mir-34a	gene	DOID:684	hepatocellular carcinoma	treatment	ISO	RGD:1343452	D	RGD:9068941	20200609	RGD		human cell line in a mouse model	PMID:25217526|REF_RGD_ID:14694835
12057050	MIR34A	microRNA mir-34a	gene	DOID:687	hepatoblastoma	severity	ISO	RGD:1343452	D	RGD:9068941	20200609	RGD		miRNA:increased expression:liver	PMID:27046304|REF_RGD_ID:14695006
12057050	MIR34A	microRNA mir-34a	gene	DOID:8398	osteoarthritis		ISO	RGD:1343452	D	RGD:9068941	20220520	RGD		mRNA:increased expression:knee, hip (human)	PMID:30048987|REF_RGD_ID:152177909
12057050	MIR34A	microRNA mir-34a	gene	DOID:8398	osteoarthritis	treatment	ISO	RGD:2325584	D	RGD:9068941	20220520	RGD			PMID:30048987|REF_RGD_ID:152177909
12057050	MIR34A	microRNA mir-34a	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:1343452	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21035526
12057050	MIR34A	microRNA mir-34a	gene	DOID:9002159	Liver Reperfusion Injury		ISO	RGD:2325584	D	RGD:9068941	20200609	RGD		miRNA:increased expression:liver	PMID:28963950|REF_RGD_ID:14695005
12057050	MIR34A	microRNA mir-34a	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1343452	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12057050	MIR34A	microRNA mir-34a	gene	DOID:9005372	Inflammation		ISO	RGD:1343452	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23834033
12057050	MIR34A	microRNA mir-34a	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1343452	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28545106
12057050	MIR34A	microRNA mir-34a	gene	DOID:9007482	Bone Metastasis	susceptibility	ISO	RGD:1343452	D	RGD:9068941	20200609	RGD		associated with hepatocellular carcinoma;miRNA:decreased expression:serum, bone	PMID:27893432|REF_RGD_ID:14694837
12057050	MIR34A	microRNA mir-34a	gene	DOID:9256	colorectal cancer		ISO	RGD:1343452	D	RGD:9068941	20220721	RGD		miRNA:increased expression:colorectum (human)	PMID:23322774|REF_RGD_ID:153002793
12057050	MIR34A	microRNA mir-34a	gene	DOID:9452	steatotic liver disease		ISO	RGD:1343452	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23834033
12057050	MIR34A	microRNA mir-34a	gene	DOID:9970	obesity		ISO	RGD:1343452	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23834033
12057110	NXPH2	neurexophilin 2	gene	DOID:0060485	Mowat-Wilson syndrome		ISO	RGD:1344701	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Mowat-Wilson syndrome	
12057110	NXPH2	neurexophilin 2	gene	DOID:5119	ovarian cyst		ISO	RGD:1344701	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21239663
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:0002116	pterygium	disease_progression	ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:19420332|REF_RGD_ID:8657043
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:0050700	cardiomyopathy		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:16681691|REF_RGD_ID:1581215
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:0060074	ductal carcinoma in situ		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:17642161|REF_RGD_ID:2290392
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:0060224	atrial fibrillation		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:18194448|REF_RGD_ID:8547896
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:0080001	bone disease		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17440987
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:0080162	lupus nephritis		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22479529
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:0080334	aortic valve disease 2		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:23615040|REF_RGD_ID:13204802
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:0080600	COVID-19		ISO	RGD:730821	D	RGD:9068941	20200820	RGD		protein:increased expression:plasma (human)	PMID:32696007|REF_RGD_ID:38501088
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:0080685	aortic dissection	treatment	ISO	RGD:730822	D	RGD:9068941	20230223	RGD		Apolipoprotein E knockout	PMID:33403385|REF_RGD_ID:156420156
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:0080696	Winchester syndrome		ISO	RGD:730821	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Winchester-Grossman syndrome	PMID:11431697|PMID:16458924|PMID:17576681|PMID:19019335|PMID:20617897|PMID:20673868|PMID:21421877|PMID:23313298|PMID:23378725|PMID:25600631|PMID:25704319|PMID:25741868|PMID:27182040|PMID:28492532|PMID:9536098
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:0080746	Sweet syndrome		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:skin	PMID:21658319|REF_RGD_ID:8657060
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:0080933	immunoglobulin light chain amyloidosis		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:renal glomeruli (human)	PMID:16164636|REF_RGD_ID:7207084
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:0080998	acute necrotizing pancreatitis		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreas (rat)	PMID:11590325|REF_RGD_ID:7207204
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:0081292	traumatic brain injury		ISO	RGD:621316	D	RGD:9068941	20230727	RGD		protein:increased expression:cerebral cortex	PMID:27614125|REF_RGD_ID:329961568
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:0110980	Joubert syndrome 1		ISO	RGD:730821	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Familial aplasia of the vermis	PMID:17558409|PMID:28492532
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:0111563	Sturge-Weber syndrome	severity	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:urine	PMID:23720035|REF_RGD_ID:13204823
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:10126	keratoconus		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:decreased expression:plasma	PMID:22580443|REF_RGD_ID:8657033
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:10159	osteonecrosis		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19070762
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:10283	prostate cancer	disease_progression	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:prostate gland	PMID:18329693|REF_RGD_ID:2290389
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:10588	adrenoleukodystrophy		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:cerebrospinal fluid	PMID:23185624|REF_RGD_ID:13204814
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:10591	pre-eclampsia		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		mRNA, protein:decreased expression:placenta	PMID:17083831|REF_RGD_ID:2290399
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:10652	Alzheimer's disease		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:decreased expression:platelet	PMID:21875409|REF_RGD_ID:10059680
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:1073	renal hypertension		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:12923405|REF_RGD_ID:1302333
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:10763	hypertension		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:kidney	PMID:17977875|REF_RGD_ID:2290351
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:10763	hypertension		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18836702
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:10763	hypertension		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:16840178|REF_RGD_ID:1582612
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:10808	gastric ulcer		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		mRNA:increased expression:stomach	PMID:15375341|REF_RGD_ID:10043177
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:10941	intracranial aneurysm		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		mRNA:increased expression:blood vessel	PMID:17569872|REF_RGD_ID:2290352
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:10941	intracranial aneurysm		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:9724118|REF_RGD_ID:1582590
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:10941	intracranial aneurysm	susceptibility	ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:16961137|REF_RGD_ID:1582646
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:10964	cholesteatoma of middle ear	severity	ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:15620146|REF_RGD_ID:8547870
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30548095
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:11054	urinary bladder cancer		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:17466450|REF_RGD_ID:2290395
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:11612	polycystic ovary syndrome		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		protein:decreased expression:ovary	PMID:21910062|REF_RGD_ID:9999396
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:11830	myopia		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		DNA:SNPs:cds, introns:multiple	PMID:20484597|REF_RGD_ID:8549731
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:11984	hypertrophic cardiomyopathy		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:18585501|REF_RGD_ID:5130889
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:12236	primary biliary cholangitis	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:20056896|REF_RGD_ID:8552731
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:12662	paracoccidioidomycosis		ISO	RGD:730822	D	RGD:9068941	20200609	RGD			PMID:19765107|REF_RGD_ID:8657058
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:127	leiomyoma		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:myometrium	PMID:17943549|REF_RGD_ID:2290362
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:1273	respiratory syncytial virus infectious disease		ISO	RGD:730822	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression, increased activity:bronchoalveolar lavage fluid	PMID:17254480|REF_RGD_ID:5130726
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:11034943|REF_RGD_ID:1582586
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:730822	D	RGD:9068941	20200609	RGD			PMID:16037568|REF_RGD_ID:1582576
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:13001	carotid stenosis		ISO	RGD:730822	D	RGD:9068941	20200609	RGD			PMID:16147977|REF_RGD_ID:1582575
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:1312	focal segmental glomerulosclerosis		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression, increased activity:kidney	PMID:19357873|REF_RGD_ID:2325738
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:13241	Behcet's disease		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:17949555|REF_RGD_ID:8657044
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:13375	temporal arteritis		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased activity:temporal artery	PMID:17502363|REF_RGD_ID:8657040
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:13580	cholestasis	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:21274875|REF_RGD_ID:8552699
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:13619	extrahepatic cholestasis		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28789951
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:aorta	PMID:20621845|REF_RGD_ID:5129489
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16159824
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:730822	D	RGD:9068941	20200609	RGD			PMID:16159824|REF_RGD_ID:1582608
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:14018	alcoholic liver cirrhosis		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23274713
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:14323	Marfan syndrome		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18178469
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:14323	Marfan syndrome		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		associated with thoracic aortic aneurysm;protein:decreased activity:aorta (human)	PMID:16820601|REF_RGD_ID:1582351
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:14323	Marfan syndrome	treatment	ISO	RGD:730822	D	RGD:9068941	20200609	RGD			PMID:18178469|REF_RGD_ID:13204796
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:1574	alcohol use disorder		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:24966898|REF_RGD_ID:13207311
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:1727	retinal vein occlusion		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-1306C>T (rs243865) (human)	PMID:23791966|REF_RGD_ID:8657048
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:1749	squamous cell carcinoma		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:nasal mucosa	PMID:21624249|REF_RGD_ID:8657057
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:1793	pancreatic cancer		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30603057
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:1793	pancreatic cancer		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		mRNA:increased expression:pancreas	PMID:7635566|REF_RGD_ID:2325766
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:1793	pancreatic cancer		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased activity:pancreatic juice	PMID:11961486|REF_RGD_ID:2325752
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:182	calcinosis		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15545515|PMID:21193197
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:1936	atherosclerosis		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:16317521|REF_RGD_ID:1582628
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:1936	atherosclerosis	ameliorates	ISO	RGD:730822	D	RGD:9068941	20230330	RGD			PMID:31757932|REF_RGD_ID:242905202
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:1936	atherosclerosis	treatment	ISO	RGD:730822	D	RGD:9068941	20200609	RGD			PMID:20370796|REF_RGD_ID:8657031
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:224	transient cerebral ischemia		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		protein:increased activity, increased expression:brain	PMID:11592852|REF_RGD_ID:8547930
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:224	transient cerebral ischemia	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:24828425|REF_RGD_ID:8657086
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:2316	brain ischemia		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:15963646|REF_RGD_ID:1582577
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:234	colon adenocarcinoma		ISO	RGD:730821	D	RGD:9068941	20220826	RGD		protein:increased expression:colon (human)	PMID:22419013|REF_RGD_ID:153344572
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:2349	arteriosclerosis		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:12526080|REF_RGD_ID:1582580
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:255	hemangioma		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:19821096|REF_RGD_ID:8657063
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:2615	papilloma	treatment	ISO	RGD:730822	D	RGD:9068941	20200609	RGD		associated with Skin Neoplasms	PMID:20619141|REF_RGD_ID:8657035
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:2671	transitional cell carcinoma		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:16901349|REF_RGD_ID:2290349
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:2738	pseudoxanthoma elasticum		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		DNA:SNPs, haplotype:promoter:multiple	PMID:20541540|REF_RGD_ID:8657064
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:2876	laryngeal squamous cell carcinoma		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:17786346|REF_RGD_ID:5130203
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:289	endometriosis		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		mRNA:increased expression:endometrium	PMID:20056200|REF_RGD_ID:2325695
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:3068	glioblastoma		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16598420
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:3068	glioblastoma	severity	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:brain (human)	PMID:7616276|REF_RGD_ID:7207145
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:3070	high grade glioma	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:19292920|REF_RGD_ID:8657080
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:321	tropical spastic paraparesis		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		associated with Sjogren's Syndrome	PMID:10464559|REF_RGD_ID:8657078
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:326	ischemia		ISO	RGD:730822	D	RGD:9068941	20200609	RGD			PMID:12842442|REF_RGD_ID:1582562
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:730822	D	RGD:9068941	20200609	RGD		protein:increased expression:skin of body, spinal cord	PMID:20441996|REF_RGD_ID:13204793
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:332	amyotrophic lateral sclerosis	severity	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:serum, cerebrospinal fluid (human)	PMID:19796283|REF_RGD_ID:7207054
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:3347	osteosarcoma		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25605016
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:3407	carotid artery disease		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:16339461|REF_RGD_ID:1582626
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:3526	cerebral infarction		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16846501
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:3587	pancreatic ductal carcinoma	severity	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:pancreas	PMID:17377415|REF_RGD_ID:2325746
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:730821	D	RGD:9068941	20220526	RGD		protein:increased activity: esophagus	PMID:24789592|REF_RGD_ID:152600903
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:3770	pulmonary fibrosis		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21468558
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:3908	lung non-small cell carcinoma	severity	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression, increased activity:lung	PMID:17143501|REF_RGD_ID:5130739
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:4079	heart valve disease		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:24093773|REF_RGD_ID:13204818
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:4448	macular degeneration	no_association	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-1306C>T (rs243865) (human)	PMID:23536957|REF_RGD_ID:8657041
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:4448	macular degeneration	susceptibility	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		DNA:silent mutation:cds:c.1380G>A (rs2287074) (human)	PMID:18359774|REF_RGD_ID:8657039
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:4450	renal cell carcinoma		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		mRNA:decreased expression:kidney	PMID:18035688|REF_RGD_ID:2290358
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:4450	renal cell carcinoma	disease_progression	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:kidney	PMID:17572184|REF_RGD_ID:2290359
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:4947	cholangiocarcinoma		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		protein:increased expression:bile duct	PMID:15213623|REF_RGD_ID:2324667
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:4947	cholangiocarcinoma	disease_progression	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:bile duct	PMID:19629755|REF_RGD_ID:2325769
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:5082	liver cirrhosis		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15763341|PMID:26396155
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:5082	liver cirrhosis	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:23411180|REF_RGD_ID:8657103
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:520	aortic disease		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15545515
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:5517	stomach carcinoma		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression, increased activity:stomach	PMID:20434464|REF_RGD_ID:2325777
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:5520	head and neck squamous cell carcinoma		ISO	RGD:730821	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Lip and oral cavity carcinoma	PMID:28595731
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:576	proteinuria	ameliorates	ISO	RGD:621316	D	RGD:9068941	20231116	RGD		associated with Experimental Diabetes Mellitus;	PMID:37643020|REF_RGD_ID:401827835
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:5773	oral submucous fibrosis		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16311067
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:5844	myocardial infarction		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:10773235|PMID:11179039|REF_RGD_ID:1582587|REF_RGD_ID:7207136
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:5844	myocardial infarction		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16310260|PMID:24358288
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:6000	congestive heart failure		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		mRNA:increased expression:heart left ventricle	PMID:10773234|REF_RGD_ID:2290467
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:6000	congestive heart failure		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:heart left ventricle, plasma	PMID:20606426|REF_RGD_ID:8694112
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:6000	congestive heart failure	severity	ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:16169329|REF_RGD_ID:1582574
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:6195	conjunctivitis	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:23378729|REF_RGD_ID:8657047
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:630	genetic disease		ISO	RGD:730821	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20084675
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:7148	rheumatoid arthritis		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16872482
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:15238617|PMID:15300177|PMID:20016209|REF_RGD_ID:1302825|REF_RGD_ID:1582579|REF_RGD_ID:2325698
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:7693	abdominal aortic aneurysm		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:11457749|REF_RGD_ID:1582585
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:7693	abdominal aortic aneurysm	no_association	ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:16458924|REF_RGD_ID:1582621
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:7693	abdominal aortic aneurysm	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:21256058|PMID:24484904|REF_RGD_ID:13207313|REF_RGD_ID:8657104
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:783	end stage renal disease		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		associated with Hypertension; protein:increased expression:plasma (human)	PMID:19886850|REF_RGD_ID:7207051
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:820	myocarditis		ISO	RGD:730822	D	RGD:9068941	20200609	RGD			PMID:16533694|REF_RGD_ID:1582352
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:824	periodontitis		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		protein:increased expression: periodontal ligament	PMID:16845949|REF_RGD_ID:2325939
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:8398	osteoarthritis		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:synovial fluid (human)	PMID:15194590|REF_RGD_ID:7207131
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:8553	pyoderma gangrenosum		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:skin	PMID:21658319|REF_RGD_ID:8657060
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:869	cholesteatoma		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:19484988|REF_RGD_ID:8657059
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:8725	vascular dementia		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:16385583|REF_RGD_ID:1582624
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:8923	skin melanoma		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:12404291|PMID:20966734|REF_RGD_ID:13204786|REF_RGD_ID:8657055
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:8923	skin melanoma	severity	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		mRNA:increased expression:skin	PMID:18251742|REF_RGD_ID:8657075
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:8947	diabetic retinopathy		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:12714657|REF_RGD_ID:1582582
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:8947	diabetic retinopathy		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma	PMID:18552985|REF_RGD_ID:8547849
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:8991	cervix uteri carcinoma in situ	disease_progression	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix	PMID:16619570|REF_RGD_ID:2290402
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9000011	Gallbladder Neoplasms	disease_progression	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:gallbladder	PMID:18665467|REF_RGD_ID:2325743
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9000039	Spinal Cord Injuries	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:24436993|REF_RGD_ID:8657106
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9000081	Lymphatic Metastasis		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		associated with Carcinoma, Ductal, Breast	PMID:23280016|REF_RGD_ID:8655998
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9000081	Lymphatic Metastasis	disease_progression	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		associated with Tongue Neoplasms	PMID:23107277|REF_RGD_ID:8547824
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9000099	Experimental Colitis	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:23323009|REF_RGD_ID:13207328
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9000113	Pneumococcal Meningitis	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:24419461|REF_RGD_ID:8657111
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9000438	Subarachnoid Hemorrhage		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:22475348|REF_RGD_ID:8657107
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9000784	Fibrosis		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		protein:increased expression:liver	PMID:20108118|REF_RGD_ID:2325790
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9000918	Disease Progression		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22321834
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9000927	Alveolar Bone Loss	treatment	ISO	RGD:621316	D	RGD:9068941	20230720	RGD		associated with periodontal disease	PMID:33364953|REF_RGD_ID:329956421
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9000955	Acute Otitis Media		ISO	RGD:730822	D	RGD:9068941	20210611	RGD		mRNA:increased expression:middle ear (mouse)	PMID:21889218|REF_RGD_ID:127284853
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		associated with Mammary Neoplasms, Animal;protein:increased expression:brain	PMID:16158251|REF_RGD_ID:8547884
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16475674|PMID:18398872|PMID:21209944|PMID:22321834|PMID:23707804|PMID:30603057
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9000965	Neoplasm Metastasis		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		associated with Gallbladder Neoplasms; protein:increased expression:gallbladder	PMID:18665467|REF_RGD_ID:2325743
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9000965	Neoplasm Metastasis	disease_progression	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		associated with pancreatic cancer; protein:increased expression, increased activity:pancreas	PMID:12173379|REF_RGD_ID:2325749
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9001004	Chronic Periodontitis		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		mRNA:increased expression:gingival tissues	PMID:21382035|REF_RGD_ID:6480655
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9001004	Chronic Periodontitis	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD		associated with Atherosclerosis	PMID:24820783|REF_RGD_ID:13207324
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9001044	Choroidal Neovascularization	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:25314292|REF_RGD_ID:13207327
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9001044	Choroidal Neovascularization	treatment	ISO	RGD:730822	D	RGD:9068941	20200609	RGD			PMID:21666238|REF_RGD_ID:8657062
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9001472	Nasal Polyps		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		associated with Rhinosinusitis;mRNA:increased expression:nasal cavity mucosa	PMID:23064462|REF_RGD_ID:8549735
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9001472	Nasal Polyps	treatment	ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:21305560|REF_RGD_ID:8656001
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9001573	Experimental Liver Cirrhosis		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15095483|PMID:25380136
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:19528495|REF_RGD_ID:2325736
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression, increased activity:liver	PMID:19539802|REF_RGD_ID:2325734
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9001586	Experimental Liver Neoplasms		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:30603057
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9002165	Diabetic Nephropathies	ameliorates	ISO	RGD:621316	D	RGD:9068941	20231116	RGD			PMID:37643020|REF_RGD_ID:401827835
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9002165	Diabetic Nephropathies	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD		associated with Diabetes Mellitus, Experimental	PMID:23384615|REF_RGD_ID:13204971
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9002221	Hyperplasia		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:19726059|REF_RGD_ID:2325718
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28157488
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-1306C>T (human)	PMID:17367869|REF_RGD_ID:13204803
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9002278	Metabolic Bone Diseases		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17440987
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9002484	Maxillary Diseases		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19070762
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9002514	Neointima		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17964422
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9002514	Neointima	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:23344254|REF_RGD_ID:13207403
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9002522	Embolism		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:15920147|REF_RGD_ID:1582578
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9002676	Cerebral Hemorrhage		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:10698078
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9002762	Ovarian Neoplasms	susceptibility	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-735C>T	PMID:18424416|REF_RGD_ID:2298519
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:19922364|REF_RGD_ID:2325703
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9002906	Multiple Organ Failure		ISO	RGD:730822	D	RGD:9068941	20200609	RGD		protein:increased activity:liver, spleen (mouse)	PMID:15259001|REF_RGD_ID:7207133
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9003036	Oral Lichen Planus		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:22554030|REF_RGD_ID:8656000
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9003230	Graft Occlusion, Vascular		ISO	RGD:730822	D	RGD:9068941	20200609	RGD		associated with Renal Insufficiency; mRNA:increased expression:arteriovenous fistula (mouse)	PMID:20598569|REF_RGD_ID:7207202
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9003234	Hypertensive Nephropathy	ameliorates	ISO	RGD:621316	D	RGD:9068941	20231116	RGD			PMID:37643020|REF_RGD_ID:401827835
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9003373	Uterine Cervical Neoplasms		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:uterine cervix	PMID:16619570|REF_RGD_ID:2290402
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9003654	Testicular Germ Cell Tumor		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22321834
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9003657	Perennial Allergic Rhinitis		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:nasal mucosa:	PMID:19786210|REF_RGD_ID:5130872
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9003819	Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased activity:urine (human)	PMID:17898039|REF_RGD_ID:7207083
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9003870	Herpes Simplex Encephalitis		ISO	RGD:730822	D	RGD:9068941	20200609	RGD		protein:increased activity:brain	PMID:15364410|REF_RGD_ID:8547868
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9003871	Venous Thrombosis		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:16171603|PMID:20515599|REF_RGD_ID:1582570|REF_RGD_ID:2325775
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9003936	Cardiomegaly		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:16327176|REF_RGD_ID:1582627
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9004080	Aortic Rupture		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18178469
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9004389	Bone Neoplasms		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16475674
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9004484	Sepsis	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:23479197|REF_RGD_ID:8657110
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9004575	Neoplasm Invasiveness		ISO	RGD:730821	D	RGD:9068941	20220407	CTD		CTD Direct Evidence: marker/mechanism	PMID:18398872|PMID:19770485|PMID:22321834|PMID:23707804|PMID:34278709
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9004610	Acute Lung Injury		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:23040778|REF_RGD_ID:13207316
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9004616	Left Ventricular Hypertrophy		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		associated with Hypertension, Renovascular	PMID:23073243|REF_RGD_ID:8657108
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9004657	Weight Gain		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25322899
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9005147	Hydatidiform Mole		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:syncytiotrophoblast cell	PMID:16884384|REF_RGD_ID:2290363
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9005175	Ulcer		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:16934674|REF_RGD_ID:1582595
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9005175	Ulcer		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:12452868|REF_RGD_ID:1582583
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9005207	Nasopharyngeal Neoplasms		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17607721
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		protein:increased expression:mammary gland	PMID:19725228|REF_RGD_ID:2325823
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9005233	Experimental Mammary Neoplasms		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28574600
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9005233	Experimental Mammary Neoplasms	treatment	ISO	RGD:730822	D	RGD:9068941	20200609	RGD			PMID:23359979|REF_RGD_ID:8657038
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9005372	Inflammation		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24795235
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9005605	Arteriovenous Fistula		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		protein:increased expression:ileal vein	PMID:17398390|REF_RGD_ID:1642040
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9005605	Arteriovenous Fistula	treatment	ISO	RGD:730822	D	RGD:9068941	20200609	RGD			PMID:23924957|REF_RGD_ID:13204800
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9005643	Experimental Diabetes Mellitus		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21963884
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9006081	Osteolysis		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		OMIM:277950, Winchester syndrome	PMID:16542393|REF_RGD_ID:1601416
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9006102	Right Ventricular Hypertrophy		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		associated with Hypertension, Pulmonary; protein:increased expression:heart	PMID:17913382|REF_RGD_ID:5130174
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9006182	Carotid Artery Injuries		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:9327785|REF_RGD_ID:8547910
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9006309	Mandibular Diseases		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19070762
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9006569	Osteolysis Hereditary Multicentric		ISO	RGD:730821	D	RGD:7240710	20180130	OMIM			
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9006569	Osteolysis Hereditary Multicentric		ISO	RGD:730821	D	RGD:8554872	20241224	ClinVar		ClinVar Annotator: match by term: MMP2-related condition | ClinVar Annotator: match by term: Multicentric Osteolysis-Nodulosis-Arthropathy (MONA) Spectrum Disorders | ClinVar Annotator: match by term: Multicentric osteolysis, nodulosis, and arthropathy | ClinVar Annotator: match by term: Osteolysis, hereditary multicentric	PMID:10356396|PMID:11431697|PMID:15691365|PMID:16542393|PMID:17059372|PMID:21421877|PMID:23313298|PMID:23378725|PMID:25741868|PMID:2625626|PMID:28492532|PMID:6525336
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9006832	Puromycin Aminonucleoside Nephrosis		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		mRNA:increased expression:renal glomerulus (rat)	PMID:9175058|REF_RGD_ID:4144855
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9007096	Stroke		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		protein:increased expression: :	PMID:19840223|REF_RGD_ID:2325713
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9007096	Stroke		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:16599837|REF_RGD_ID:1582617
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:15763341
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9007480	Hyperoxia		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		protein:decreased expression, decreased activity:lung	PMID:15128910|REF_RGD_ID:8547972
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9007590	Gouty Arthritis	severity	ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:14687896|REF_RGD_ID:8547877
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9007715	Endometrial Neoplasms	disease_progression	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:endometrium	PMID:17009991|REF_RGD_ID:2290360
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:730822	D	RGD:9068941	20200609	RGD			PMID:16699069|REF_RGD_ID:1582614
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9007838	Myocardial Reperfusion Injury	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:23889688|REF_RGD_ID:8657084
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9007871	Malignant Pleural Effusions		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		associated with pleurisy; protein:decreased activity:pleura	PMID:17611666|REF_RGD_ID:5130711
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9007889	Nephrogenic Fibrosing Dermopathy		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:skin (human)	PMID:20708474|REF_RGD_ID:7207047
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9007971	Nose Neoplasms		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16178123
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9008443	Colorectal Neoplasms		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18507500|PMID:21278247
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9008443	Colorectal Neoplasms	treatment	ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:23149858|REF_RGD_ID:8657112
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9008527	Chlamydophila Infections		ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:12526080|REF_RGD_ID:1582580
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9008537	Polypoidal Choroidal Vasculopathy		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:serum	PMID:23559867|REF_RGD_ID:8547885
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9008731	Craniofacial Abnormalities		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17400654|PMID:17440987
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9008870	Chromosome 16q12 Duplication Syndrome		ISO	RGD:730821	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: Chromosome 16q12 duplication syndrome	PMID:25741868|PMID:33891002
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:18398872|PMID:18507500
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		DNA:SNP:promoter:-1306C>T (human)	PMID:17851253|REF_RGD_ID:8655999
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:breast	PMID:17642161|REF_RGD_ID:2290392
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9008939	Breast Neoplasms	disease_progression	ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:15538048|REF_RGD_ID:8547818
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9008939	Breast Neoplasms	disease_progression	ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:decreased expression:serum	PMID:16949931|REF_RGD_ID:2290401
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9111	cutaneous leishmaniasis		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21091666
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9111	cutaneous leishmaniasis	treatment	ISO	RGD:730821	D	RGD:9068941	20200609	RGD			PMID:21091666|REF_RGD_ID:8657030
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9256	colorectal cancer		ISO	RGD:730821	D	RGD:9068941	20220421	RGD		human cells in mouse model	PMID:30789971|REF_RGD_ID:151893289
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9282	ocular hypertension		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		mRNA, protein:increased expression:eye	PMID:19575923|REF_RGD_ID:2325732
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:730821	D	RGD:9068941	20200609	RGD		protein:increased expression:plasma (human)	PMID:17320450|REF_RGD_ID:7207195
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9477	pulmonary embolism		ISO	RGD:621316	D	RGD:9068941	20200609	RGD			PMID:16304337|REF_RGD_ID:1582630
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9675	pulmonary emphysema		ISO	RGD:621316	D	RGD:9068941	20200609	RGD		protein:increased activity:lung	PMID:19897563|REF_RGD_ID:4892307
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9675	pulmonary emphysema		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25106431
12057161	MMP2	matrix metallopeptidase 2	gene	DOID:9743	diabetic neuropathy		ISO	RGD:730821	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20213226
12057177	TTC7A	tetratricopeptide repeat domain 7A	gene	DOID:12177	common variable immunodeficiency		ISO	RGD:1314700	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Common variable immunodeficiency	PMID:17576681|PMID:25741868|PMID:28492532|PMID:32499645|PMID:32581362|PMID:9536098
12057177	TTC7A	tetratricopeptide repeat domain 7A	gene	DOID:14671	multiple intestinal atresia		ISO	RGD:1314700	D	RGD:7240710	20180130	OMIM			
12057177	TTC7A	tetratricopeptide repeat domain 7A	gene	DOID:14671	multiple intestinal atresia		ISO	RGD:1314700	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Gastrointestinal defects and immunodeficiency syndrome 1 | ClinVar Annotator: match by term: Multiple gastrointestinal atresias | ClinVar Annotator: match by term: Multiple intestinal atresia | ClinVar Annotator: match by term: TTC7A-related condition	PMID:16199547|PMID:17576681|PMID:23423984|PMID:23830146|PMID:24033266|PMID:24266605|PMID:24292712|PMID:24417819|PMID:24448499|PMID:24931897|PMID:25174867|PMID:25326635|PMID:25534311|PMID:25587526|PMID:25741868|PMID:26193622|PMID:26938784|PMID:27418642|PMID:27577878|PMID:28492532|PMID:28808844|PMID:28930861|PMID:28936210|PMID:29174094|PMID:30443250|PMID:30553809|PMID:31342292|PMID:31616743|PMID:31787977|PMID:31814065|PMID:31980526|PMID:32084423|PMID:32499645|PMID:32531373|PMID:32581362|PMID:32888943|PMID:35627206|PMID:9536098
12057177	TTC7A	tetratricopeptide repeat domain 7A	gene	DOID:3883	Lynch syndrome		ISO	RGD:1314700	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hereditary nonpolyposis colorectal neoplasms	PMID:28492532
12057177	TTC7A	tetratricopeptide repeat domain 7A	gene	DOID:627	severe combined immunodeficiency		ISO	RGD:1314700	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Severe combined immunodeficiency disease	
12057177	TTC7A	tetratricopeptide repeat domain 7A	gene	DOID:630	genetic disease		ISO	RGD:1314700	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12057177	TTC7A	tetratricopeptide repeat domain 7A	gene	DOID:8893	psoriasis		ISO	RGD:1314701	D	RGD:9068941	20220825	MouseDO		OMIM:177900 | OMIM:601454 | OMIM:602723 | OMIM:603935 | OMIM:604316 | OMIM:605364 | OMIM:605606 | OMIM:607857 | OMIM:610707 | OMIM:612410 | OMIM:612599 | OMIM:612950 | OMIM:614070 | OMIM:616106	
12057177	TTC7A	tetratricopeptide repeat domain 7A	gene	DOID:9009203	Gastrointestinal defects and immunodeficiency syndrome		ISO	RGD:1314700	D	RGD:8554872	20240827	ClinVar		ClinVar Annotator: match by term: Gastrointestinal defects and immunodeficiency syndrome	PMID:16199547|PMID:23423984|PMID:23830146|PMID:24292712|PMID:24417819|PMID:25174867|PMID:25326635|PMID:25741868|PMID:27418642|PMID:27577878|PMID:28492532|PMID:28936210|PMID:31616743|PMID:32084423|PMID:32888943
12057204	SIL1	SIL1 nucleotide exchange factor	gene	DOID:0070061	autosomal dominant intellectual developmental disorder 31		ISO	RGD:1605350	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES	PMID:28492532
12057204	SIL1	SIL1 nucleotide exchange factor	gene	DOID:0080195	Marinesco-Sjogren syndrome		ISO	RGD:1605350	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Marinesco-Sjogren Syndrome | ClinVar Annotator: match by term: Marinesco-Sjogren-Garland Syndrome | ClinVar Annotator: match by term: Marinesco-Sjögren syndrome	PMID:10665502|PMID:12692552|PMID:16199547|PMID:16282977|PMID:16282978|PMID:17026626|PMID:17309654|PMID:17576681|PMID:18285827|PMID:19471582|PMID:20111056|PMID:21873089|PMID:22995991|PMID:23062754|PMID:23829326|PMID:24176978|PMID:24473200|PMID:24631270|PMID:24755310|PMID:25741868|PMID:26467025|PMID:26733775|PMID:28492532|PMID:31130284|PMID:31258504|PMID:32502767|PMID:32552793|PMID:33250842|PMID:9536098
12057204	SIL1	SIL1 nucleotide exchange factor	gene	DOID:0080409	familial adenomatous polyposis 1		ISO	RGD:1605350	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Familial adenomatous polyposis 1	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
12057204	SIL1	SIL1 nucleotide exchange factor	gene	DOID:0080600	COVID-19		ISO	RGD:1605350	D	RGD:9068941	20200625	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12057204	SIL1	SIL1 nucleotide exchange factor	gene	DOID:0111457	STING-associated vasculopathy with onset in infancy		ISO	RGD:1605350	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: STING-associated vasculopathy with onset in infancy	PMID:28492532
12057204	SIL1	SIL1 nucleotide exchange factor	gene	DOID:0112056	X-linked intellectual disability-short stature-overweight syndrome		ISO	RGD:1605350	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: X-linked intellectual disability-short stature-overweight syndrome	PMID:19471582|PMID:22995991|PMID:25741868|PMID:26467025|PMID:28492532|PMID:31258504|PMID:33250842
12057204	SIL1	SIL1 nucleotide exchange factor	gene	DOID:630	genetic disease		ISO	RGD:1605350	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26467025|PMID:28492532
12057204	SIL1	SIL1 nucleotide exchange factor	gene	DOID:83	cataract		ISO	RGD:1605350	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cataract	PMID:32581362
12057204	SIL1	SIL1 nucleotide exchange factor	gene	DOID:9002304	Prostatic Neoplasms		ISO	RGD:1605350	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17013881
12057204	SIL1	SIL1 nucleotide exchange factor	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1605350	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12057204	SIL1	SIL1 nucleotide exchange factor	gene	DOID:9007071	Hereditary Neoplastic Syndromes		ISO	RGD:1605350	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Hereditary Cancer Syndrome	PMID:17963004|PMID:18487285|PMID:19279422|PMID:19409520|PMID:20685668|PMID:21643010|PMID:28492532
12057204	SIL1	SIL1 nucleotide exchange factor	gene	DOID:9008086	Developmental Disabilities		ISO	RGD:1605350	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Global developmental delay	PMID:32581362
12057204	SIL1	SIL1 nucleotide exchange factor	gene	DOID:9277	primary cerebellar degeneration		ISO	RGD:1605350	D	RGD:7240710	20180130	OMIM			
12057221	FSD1L	fibronectin type III and SPRY domain containing 1 like	gene	DOID:0050560	Walker-Warburg syndrome		ISO	RGD:1353389	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy	PMID:17044012|PMID:17878207|PMID:18752264|PMID:28492532
12057221	FSD1L	fibronectin type III and SPRY domain containing 1 like	gene	DOID:10908	hydrocephalus		ISO	RGD:1353389	D	RGD:8554872	20231212	ClinVar		ClinVar Annotator: match by term: Hydrocephalus, nonsyndromic, autosomal recessive 1	PMID:25741868
12057242	ASCC3	activating signal cointegrator 1 complex subunit 3	gene	DOID:0080600	COVID-19		ISO	RGD:1344771	D	RGD:9068941	20200618	RGD		mRNA:increased expression:bronchoalveolar lavage (human)	PMID:32407669|REF_RGD_ID:30296672
12057242	ASCC3	activating signal cointegrator 1 complex subunit 3	gene	DOID:0081337	congenital myopathy		ISO	RGD:1344771	D	RGD:8554872	20240109	ClinVar		ClinVar Annotator: match by term: Congenital myopathy	PMID:25741868
12057242	ASCC3	activating signal cointegrator 1 complex subunit 3	gene	DOID:1059	intellectual disability		ISO	RGD:1344771	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21937992
12057242	ASCC3	activating signal cointegrator 1 complex subunit 3	gene	DOID:630	genetic disease		ISO	RGD:1344771	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:28492532
12057242	ASCC3	activating signal cointegrator 1 complex subunit 3	gene	DOID:9008488	Autosomal Recessive Intellectual Developmental Disorder 81		ISO	RGD:1344771	D	RGD:7240710	20240207	OMIM			
12057242	ASCC3	activating signal cointegrator 1 complex subunit 3	gene	DOID:9008488	Autosomal Recessive Intellectual Developmental Disorder 81		ISO	RGD:1344771	D	RGD:8554872	20240326	ClinVar		ClinVar Annotator: match by term: Intellectual developmental disorder, autosomal recessive 81	PMID:21937992|PMID:25741868|PMID:35047834
12057288	TFDP2	transcription factor Dp-2	gene	DOID:0080600	COVID-19		ISO	RGD:1314075	D	RGD:9068941	20200618	RGD		mRNA:decreased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12057288	TFDP2	transcription factor Dp-2	gene	DOID:1790	malignant mesothelioma		ISO	RGD:1314075	D	RGD:9068941	20210312	CTD		CTD Direct Evidence: marker/mechanism	PMID:25756049
12057316	PADI3	peptidyl arginine deiminase 3	gene	DOID:0060410	chromosome 1p36 deletion syndrome		ISO	RGD:732756	D	RGD:8554872	20230509	ClinVar		ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome	
12057316	PADI3	peptidyl arginine deiminase 3	gene	DOID:630	genetic disease		ISO	RGD:732756	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	
12057316	PADI3	peptidyl arginine deiminase 3	gene	DOID:9000619	Uncombable Hair Syndrome 1		ISO	RGD:732756	D	RGD:7240710	20220601	OMIM			
12057316	PADI3	peptidyl arginine deiminase 3	gene	DOID:9000619	Uncombable Hair Syndrome 1		ISO	RGD:732756	D	RGD:8554872	20240403	ClinVar		ClinVar Annotator: match by term: PADI3-related condition | ClinVar Annotator: match by term: Uncombable hair syndrome 1	PMID:22381266|PMID:24629392|PMID:25741868|PMID:27866708|PMID:28492532|PMID:35279260
12057316	PADI3	peptidyl arginine deiminase 3	gene	DOID:9005997	Uncombable Hair Syndrome		ISO	RGD:732756	D	RGD:9068941	20220609	CTD		CTD Direct Evidence: marker/mechanism	
12057316	PADI3	peptidyl arginine deiminase 3	gene	DOID:9007442	Central Centrifugal Cicatricial Alopecia		ISO	RGD:732756	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Central centrifugal cicatricial alopecia	PMID:30763140
12057336	RETREG1	reticulophagy regulator 1	gene	DOID:0050548	hereditary sensory neuropathy		ISO	RGD:1601869	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:19838196
12057336	RETREG1	reticulophagy regulator 1	gene	DOID:0070150	hereditary sensory and autonomic neuropathy type 2B		ISO	RGD:1601869	D	RGD:7240710	20180130	OMIM			
12057336	RETREG1	reticulophagy regulator 1	gene	DOID:0070150	hereditary sensory and autonomic neuropathy type 2B		ISO	RGD:1601869	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2B | ClinVar Annotator: match by term: RETREG1-related condition	PMID:17576681|PMID:19838196|PMID:24327336|PMID:25741868|PMID:28492532|PMID:31737055|PMID:33199694|PMID:35332675|PMID:9536098
12057336	RETREG1	reticulophagy regulator 1	gene	DOID:0070155	hereditary sensory and autonomic neuropathy type 2A		ISO	RGD:1601869	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Neuropathy, hereditary sensory and autonomic, type 2A	PMID:25741868|PMID:28492532
12057336	RETREG1	reticulophagy regulator 1	gene	DOID:0070161	hereditary sensory and autonomic neuropathy type 2		ISO	RGD:1601869	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Hereditary sensory and autonomic neuropathy type 2	PMID:19838196|PMID:24327336|PMID:25741868|PMID:28492532|PMID:31737055|PMID:33199694|PMID:35332675
12057336	RETREG1	reticulophagy regulator 1	gene	DOID:10595	Charcot-Marie-Tooth disease		ISO	RGD:1601869	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth disease	PMID:19838196|PMID:24327336|PMID:25741868|PMID:28492532|PMID:31737055|PMID:33199694|PMID:35332675
12057336	RETREG1	reticulophagy regulator 1	gene	DOID:2476	hereditary spastic paraplegia		ISO	RGD:1601869	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary spastic paraplegia	PMID:25741868
12057336	RETREG1	reticulophagy regulator 1	gene	DOID:630	genetic disease		ISO	RGD:1601869	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:19838196|PMID:25741868|PMID:28492532|PMID:31737055|PMID:33199694|PMID:35332675
12057336	RETREG1	reticulophagy regulator 1	gene	DOID:9003855	Vesicoureteral Reflux 5		IAGP		D	RGD:12801476	20210818	OMIA		Neuropathy, sensory, RETREG1-related	PMID:15971901|PMID:16266014|PMID:27527794|PMID:30307654|PMID:30955094|PMID:23123885|PMID:34387380|PMID:6295050
12057336	RETREG1	reticulophagy regulator 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1601869	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:0050572	cone-rod dystrophy		ISO	RGD:1345435	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cone-rod dystrophy	PMID:25741868
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:0050692	Brody myopathy		ISO	RGD:1345435	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Brody myopathy	PMID:10914677|PMID:23911890|PMID:28492532|PMID:32040565|PMID:8841193
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:0110731	neuronal ceroid lipofuscinosis 3		ISO	RGD:1345435	D	RGD:7240710	20180130	OMIM			
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:0110731	neuronal ceroid lipofuscinosis 3		ISO	RGD:1345435	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: CLN3-Related Neuronal Ceroid-Lipofuscinosis | ClinVar Annotator: match by term: Ceroid lipofuscinosis, neuronal, 3, protracted | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis 3 | ClinVar Annotator: match by term: Spielmeyer Sjogren disease	PMID:10332042|PMID:10749980|PMID:10924275|PMID:11339651|PMID:11589014|PMID:12189165|PMID:14699076|PMID:16199547|PMID:16291725|PMID:17475770|PMID:17576681|PMID:17868323|PMID:17947292|PMID:18414213|PMID:19132115|PMID:19135632|PMID:19489875|PMID:20187884|PMID:20301601|PMID:21228398|PMID:21499717|PMID:21990111|PMID:22013180|PMID:22545070|PMID:22748208|PMID:23142271|PMID:23374165|PMID:23539563|PMID:23847139|PMID:24154662|PMID:24271013|PMID:24625443|PMID:24827497|PMID:25525159|PMID:25741868|PMID:25976102|PMID:26467025|PMID:26633542|PMID:26766544|PMID:27104957|PMID:27290639|PMID:27486012|PMID:27843123|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28542676|PMID:28559085|PMID:28792770|PMID:29049447|PMID:29053603|PMID:29343940|PMID:29753273|PMID:30446867|PMID:30769084|PMID:31440721|PMID:31568712|PMID:31736247|PMID:31926949|PMID:32037395|PMID:32154056|PMID:32441891|PMID:32581362|PMID:32685355|PMID:33497524|PMID:33507216|PMID:33921607|PMID:34712575|PMID:34906470|PMID:35929194|PMID:36011402|PMID:36139381|PMID:36819107|PMID:36909829|PMID:7553855|PMID:7887420|PMID:9004140|PMID:9311735|PMID:9392580|PMID:9450775|PMID:9490299|PMID:9536098|PMID:9618513|PMID:9932957
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:0111446	progressive myoclonus epilepsy 3		ISO	RGD:1345435	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: CEROID LIPOFUSCINOSIS, NEURONAL, 14	PMID:25741868|PMID:28492532
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1345435	D	RGD:8554872	20230606	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10332042|PMID:17576681|PMID:17947292|PMID:19132115|PMID:21990111|PMID:22013180|PMID:24154662|PMID:25741868|PMID:26766544|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28542676|PMID:28559085|PMID:29049447|PMID:31568712|PMID:32581362|PMID:32685355|PMID:33507216|PMID:34906470|PMID:7553855|PMID:9311735|PMID:9536098
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:10584	retinitis pigmentosa		ISO	RGD:1345435	D	RGD:8554872	20230912	ClinVar		ClinVar Annotator: match by term: Retinitis pigmentosa	PMID:10332042|PMID:17576681|PMID:17947292|PMID:19132115|PMID:20301601|PMID:21990111|PMID:22013180|PMID:24154662|PMID:25741868|PMID:26766544|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28542676|PMID:28559085|PMID:29049447|PMID:31568712|PMID:32581362|PMID:32685355|PMID:33507216|PMID:34906470|PMID:36909829|PMID:7553855|PMID:9004140|PMID:9311735|PMID:9392580|PMID:9536098
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:1059	intellectual disability		ISO	RGD:1345435	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Intellectual disability | ClinVar Annotator: match by term: intellectual disabilities	PMID:25741868|PMID:28492532|PMID:33507216
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:14503	neuronal ceroid lipofuscinosis		ISO	RGD:1345435	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Ceroid storage disease | ClinVar Annotator: match by term: Neuronal ceroid lipofuscinosis	PMID:10332042|PMID:10749980|PMID:10924275|PMID:11339651|PMID:11589014|PMID:12189165|PMID:16199547|PMID:16291725|PMID:17475770|PMID:17576681|PMID:17868323|PMID:17947292|PMID:18414213|PMID:19132115|PMID:19135632|PMID:19489875|PMID:20187884|PMID:21228398|PMID:21499717|PMID:21990111|PMID:22013180|PMID:22545070|PMID:22748208|PMID:23142271|PMID:23374165|PMID:23539563|PMID:23847139|PMID:24154662|PMID:24271013|PMID:24625443|PMID:25525159|PMID:25640679|PMID:25741868|PMID:25976102|PMID:26467025|PMID:26633542|PMID:26766544|PMID:27104957|PMID:27290639|PMID:27486012|PMID:27843123|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28542676|PMID:28559085|PMID:28792770|PMID:29049447|PMID:29053603|PMID:29343940|PMID:29753273|PMID:30446867|PMID:30769084|PMID:31440721|PMID:31568712|PMID:31736247|PMID:31926949|PMID:32037395|PMID:32154056|PMID:32441891|PMID:32581362|PMID:32631363|PMID:32685355|PMID:33497524|PMID:33507216|PMID:33921607|PMID:34712575|PMID:34849271|PMID:34906470|PMID:35929194|PMID:36011402|PMID:36139381|PMID:36819107|PMID:36909829|PMID:7553855|PMID:9311735|PMID:9450775|PMID:9490299|PMID:9536098|PMID:9618513|PMID:9932957
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:1826	epilepsy		ISO	RGD:1345435	D	RGD:8554872	20220726	ClinVar		ClinVar Annotator: match by term: Seizure	PMID:25741868|PMID:26467025|PMID:28492532|PMID:32037395
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:5419	schizophrenia		ISO	RGD:1345435	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:630	genetic disease		ISO	RGD:1345435	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:10332042|PMID:16199547|PMID:16291725|PMID:17576681|PMID:18414213|PMID:19132115|PMID:19135632|PMID:21228398|PMID:21499717|PMID:21990111|PMID:22013180|PMID:22545070|PMID:23142271|PMID:24154662|PMID:24271013|PMID:25525159|PMID:25741868|PMID:26467025|PMID:27104957|PMID:27290639|PMID:27486012|PMID:27843123|PMID:28041643|PMID:28492532|PMID:28542676|PMID:29753273|PMID:30446867|PMID:31440721|PMID:31568712|PMID:32037395|PMID:33497524|PMID:33507216|PMID:34712575|PMID:36819107|PMID:9311735|PMID:9450775|PMID:9490299|PMID:9536098
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:8501	fundus dystrophy		ISO	RGD:1345435	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Retinal dystrophy	PMID:10332042|PMID:12796825|PMID:16291725|PMID:17947292|PMID:18414213|PMID:19132115|PMID:19135632|PMID:20187884|PMID:21228398|PMID:21359416|PMID:21499717|PMID:21990111|PMID:22013180|PMID:22545070|PMID:23539563|PMID:23860047|PMID:23919525|PMID:24154662|PMID:24979587|PMID:25525159|PMID:25741868|PMID:26308342|PMID:26766544|PMID:27104957|PMID:27486012|PMID:28041643|PMID:28224992|PMID:28492532|PMID:28542676|PMID:28559085|PMID:29049447|PMID:29753273|PMID:30446867|PMID:30480032|PMID:30548430|PMID:31440721|PMID:31568712|PMID:32154056|PMID:32581362|PMID:32685355|PMID:33497524|PMID:33507216|PMID:33851411|PMID:34712575|PMID:34906470|PMID:36819107|PMID:36909829|PMID:7553855|PMID:9311735|PMID:9392580|PMID:9450775|PMID:9490299
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:1345435	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive	PMID:25741868|PMID:26467025|PMID:27843123|PMID:28041643|PMID:28492532|PMID:28542676
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:891	progressive myoclonus epilepsy		ISO	RGD:1345435	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive | ClinVar Annotator: match by term: Progressive myoclonic epilepsy	PMID:17576681|PMID:25741868|PMID:26467025|PMID:27843123|PMID:28041643|PMID:28492532|PMID:28542676|PMID:9536098
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:9000217	Stomach Neoplasms		ISO	RGD:1345435	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:9000343	Vision Disorders		ISO	RGD:1345435	D	RGD:9068941	20240208	CTD		CTD Direct Evidence: marker/mechanism	PMID:24804307
12057354	CLN3	CLN3 lysosomal/endosomal transmembrane protein, battenin	gene	DOID:9000918	Disease Progression		ISO	RGD:1345435	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21364753
12057381	MRPL28	mitochondrial ribosomal protein L28	gene	DOID:0110097	short-rib thoracic dysplasia 9 with or without polydactyly		ISO	RGD:1349308	D	RGD:8554872	20230314	ClinVar		ClinVar Annotator: match by term: Saldino-Mainzer syndrome	PMID:19370764|PMID:20301784|PMID:22503633|PMID:23418020|PMID:24009529|PMID:26216056|PMID:28492532
12057381	MRPL28	mitochondrial ribosomal protein L28	gene	DOID:13501	Moebius syndrome		ISO	RGD:1349308	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum	
12057381	MRPL28	mitochondrial ribosomal protein L28	gene	DOID:1826	epilepsy		ISO	RGD:1349308	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Epilepsy | ClinVar Annotator: match by term: Seizure	PMID:24463883|PMID:25558065|PMID:28492532
12057381	MRPL28	mitochondrial ribosomal protein L28	gene	DOID:1827	idiopathic generalized epilepsy		ISO	RGD:1349308	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Idiopathic generalized epilepsy	PMID:28492532
12057390	PBX3	PBX homeobox 3	gene	DOID:0111008	X-linked cone-rod dystrophy 1		ISO	RGD:1316248	D	RGD:8554872	20230523	ClinVar		ClinVar Annotator: match by term: X-linked cone-rod dystrophy	
12057390	PBX3	PBX homeobox 3	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1316248	D	RGD:9068941	20220902	RGD		RNA:increased expression:esophagus squamous epithelium (human)	PMID:32449803|REF_RGD_ID:153345544
12057390	PBX3	PBX homeobox 3	gene	DOID:9008565	Congenital Heart Defects, Multiple Types		ISO	RGD:1316248	D	RGD:9068941	20221027	RGD		DNA:missense mutation:CDS:pAla136Val (human)	PMID:22426282|REF_RGD_ID:155630639
12057403	SLC1A4	solute carrier family 1 member 4	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1345199	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12057403	SLC1A4	solute carrier family 1 member 4	gene	DOID:0070537	spastic tetraplegia, thin corpus callosum, and progressive microcephaly		ISO	RGD:1345199	D	RGD:7240710	20180130	OMIM			
12057403	SLC1A4	solute carrier family 1 member 4	gene	DOID:0070537	spastic tetraplegia, thin corpus callosum, and progressive microcephaly		ISO	RGD:1345199	D	RGD:8554872	20231107	ClinVar		ClinVar Annotator: match by term: SLC1A4-related condition | ClinVar Annotator: match by term: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	PMID:25741868|PMID:25930971|PMID:26041762|PMID:26138499|PMID:27193218|PMID:27848944|PMID:28327206|PMID:2837306|PMID:28492532|PMID:29989513|PMID:30125339|PMID:32404165|PMID:34174466
12057403	SLC1A4	solute carrier family 1 member 4	gene	DOID:10907	microcephaly		ISO	RGD:1345199	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12057403	SLC1A4	solute carrier family 1 member 4	gene	DOID:630	genetic disease		ISO	RGD:1345199	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:25741868|PMID:26041762|PMID:27193218|PMID:28327206|PMID:2837306|PMID:28492532|PMID:34174466
12057415	COL19A1	collagen type XIX alpha 1 chain	gene	DOID:0050717	methylmalonic aciduria and homocystinuria type cblF		ISO	RGD:1318965	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Methylmalonic aciduria and homocystinuria type cblF	PMID:19136951|PMID:21303734|PMID:28492532
12057415	COL19A1	collagen type XIX alpha 1 chain	gene	DOID:14330	Parkinson's disease		ISO	RGD:1318965	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25475535
12057492	ABCB8	ATP binding cassette subfamily B member 8	gene	DOID:0090101	lethal congenital glycogen storage disease of heart		ISO	RGD:1316973	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Lethal congenital glycogen storage disease of heart	PMID:28492532
12057492	ABCB8	ATP binding cassette subfamily B member 8	gene	DOID:2843	long QT syndrome		ISO	RGD:1316973	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:10973849|PMID:16470702|PMID:18348270|PMID:19443486|PMID:19862833|PMID:21185499|PMID:25606385|PMID:28492532
12057492	ABCB8	ATP binding cassette subfamily B member 8	gene	DOID:9002801	Recurrence		ISO	RGD:1316973	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:35837087
12057492	ABCB8	ATP binding cassette subfamily B member 8	gene	DOID:9004547	Thyroid Neoplasms		ISO	RGD:1316973	D	RGD:9068941	20230309	CTD		CTD Direct Evidence: marker/mechanism	PMID:35837087
12057518	SSUH2	ssu-2 homolog	gene	DOID:0050700	cardiomyopathy		ISO	RGD:1603044	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Cardiomyopathy	PMID:17897828|PMID:24033266|PMID:25351510|PMID:25741868|PMID:26159999|PMID:26467025|PMID:27066573|PMID:27312022|PMID:27854218|PMID:28492532
12057518	SSUH2	ssu-2 homolog	gene	DOID:0060255	rippling muscle disease 2		ISO	RGD:1603044	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Rippling muscle disease 2	PMID:10227634|PMID:10746614|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:17897828|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21404291|PMID:21610159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28981925|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801
12057518	SSUH2	ssu-2 homolog	gene	DOID:0110307	hypertrophic cardiomyopathy 1		ISO	RGD:1603044	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 1	PMID:10227634|PMID:10746614|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:17897828|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21404291|PMID:21610159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28981925|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801
12057518	SSUH2	ssu-2 homolog	gene	DOID:0110650	long QT syndrome 9		ISO	RGD:1603044	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Long QT syndrome 9	PMID:10227634|PMID:10746614|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:17897828|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21404291|PMID:21610159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28981925|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801
12057518	SSUH2	ssu-2 homolog	gene	DOID:0111191	distal myopathy Tateyama type		ISO	RGD:1603044	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Distal myopathy, Tateyama type	PMID:10227634|PMID:10746614|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:17897828|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21404291|PMID:21610159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28981925|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801
12057518	SSUH2	ssu-2 homolog	gene	DOID:0111338	isolated elevated serum creatine phosphokinase levels		ISO	RGD:1603044	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Elevated serum creatine phosphokinase	PMID:10227634|PMID:10746614|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:17897828|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21404291|PMID:21610159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28981925|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801
12057518	SSUH2	ssu-2 homolog	gene	DOID:2843	long QT syndrome		ISO	RGD:1603044	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital long QT syndrome | ClinVar Annotator: match by term: Long QT syndrome | ClinVar Annotator: match by term: Prolonged QT interval	PMID:10227634|PMID:10746614|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:12082049|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:14672715|PMID:15314133|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:16730439|PMID:17537631|PMID:17556197|PMID:17576681|PMID:17897828|PMID:18487559|PMID:18583131|PMID:18606002|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21294223|PMID:21404291|PMID:21610159|PMID:24033266|PMID:25351510|PMID:25741868|PMID:26132555|PMID:26159999|PMID:26185955|PMID:26467025|PMID:27061274|PMID:27066573|PMID:27312022|PMID:27854218|PMID:28492532|PMID:28981925|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801|PMID:9536098
12057518	SSUH2	ssu-2 homolog	gene	DOID:2843	long QT syndrome		ISO	RGD:1603044	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Long QT syndrome	PMID:10227634|PMID:10746614|PMID:11353417|PMID:11431690|PMID:11756609|PMID:11805270|PMID:12269726|PMID:12807393|PMID:12839838|PMID:12939441|PMID:14633633|PMID:15318349|PMID:15564037|PMID:15580566|PMID:16723230|PMID:17897828|PMID:18583131|PMID:18930476|PMID:19380584|PMID:20472890|PMID:21404291|PMID:21610159|PMID:25741868|PMID:26467025|PMID:28492532|PMID:28981925|PMID:30055862|PMID:30174172|PMID:30723005|PMID:31036801
12057518	SSUH2	ssu-2 homolog	gene	DOID:701	dentin dysplasia		ISO	RGD:1557646	D	RGD:9068941	20220825	MouseDO		OMIM:125400 | OMIM:125420	
12057518	SSUH2	ssu-2 homolog	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1603044	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12057518	SSUH2	ssu-2 homolog	gene	DOID:9009051	Atrioventricular Septal Defect 2		ISO	RGD:1603044	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2	PMID:28492532
12057537	UNC13A	unc-13 homolog A	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1345956	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:25741868|PMID:28192369
12057537	UNC13A	unc-13 homolog A	gene	DOID:0060193	amyotrophic lateral sclerosis type 1		ISO	RGD:1345956	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 1	PMID:25741868
12057537	UNC13A	unc-13 homolog A	gene	DOID:12849	autistic disorder		ISO	RGD:1345956	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
12057537	UNC13A	unc-13 homolog A	gene	DOID:332	amyotrophic lateral sclerosis		ISO	RGD:1345956	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Amyotrophic lateral sclerosis | ClinVar Annotator: match by term: Charcot disease	PMID:25741868|PMID:27790088
12057537	UNC13A	unc-13 homolog A	gene	DOID:332	amyotrophic lateral sclerosis	no_association	ISO	RGD:1345956	D	RGD:9068941	20200609	RGD		DNA:SNP:intron:rs12608932 (human)	PMID:20385924|REF_RGD_ID:5686382
12057537	UNC13A	unc-13 homolog A	gene	DOID:9000495	Tremor		ISO	RGD:1345956	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: tremors	PMID:25741868|PMID:28192369
12057537	UNC13A	unc-13 homolog A	gene	DOID:9002231	Fetal Growth Retardation		ISO	RGD:619722	D	RGD:9068941	20200609	RGD			PMID:18787382|REF_RGD_ID:5686390
12057537	UNC13A	unc-13 homolog A	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1345956	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:28192369
12057537	UNC13A	unc-13 homolog A	gene	DOID:9007956	Febrile Seizures		ISO	RGD:1345956	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: febrile convulsion	PMID:25741868|PMID:28192369
12057581	KLHL1	kelch like family member 1	gene	DOID:0060391	chromosome 13q14 deletion syndrome		ISO	RGD:1316652	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Chromosome 13q14 deletion syndrome	
12057595	LOC486692	NKG2-A/NKG2-B type II integral membrane protein-like	gene	DOID:11949	Creutzfeldt-Jakob disease		ISO	RGD:1349370	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23349890
12057624	MRPS33	mitochondrial ribosomal protein S33	gene	DOID:0080132	Sengers syndrome		ISO	RGD:1319435	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Sengers syndrome	PMID:22284826|PMID:28492532
12057624	MRPS33	mitochondrial ribosomal protein S33	gene	DOID:0080690	RASopathy		ISO	RGD:1319435	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: RASopathy	PMID:12414817|PMID:16611712|PMID:28492532
12057624	MRPS33	mitochondrial ribosomal protein S33	gene	DOID:3312	bipolar disorder		ISO	RGD:1319435	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:31043756
12057677	TAS1R3	taste 1 receptor member 3	gene	DOID:0050802	Ehlers-Danlos syndrome spondylodysplastic type 2		ISO	RGD:1344836	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Ehlers-Danlos syndrome, spondylodysplastic type, 2	PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594
12057677	TAS1R3	taste 1 receptor member 3	gene	DOID:0060410	chromosome 1p36 deletion syndrome		ISO	RGD:1344836	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome	PMID:25741868
12057677	TAS1R3	taste 1 receptor member 3	gene	DOID:0060481	Goldberg-Shprintzen syndrome		ISO	RGD:1344836	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome	PMID:23892090|PMID:28492532|PMID:31602316
12057677	TAS1R3	taste 1 receptor member 3	gene	DOID:0081157	dilated cardiomyopathy 1LL		ISO	RGD:1344836	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Left ventricular noncompaction 8	PMID:28492532
12057677	TAS1R3	taste 1 receptor member 3	gene	DOID:0110657	congenital myasthenic syndrome 8		ISO	RGD:1344836	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Congenital myasthenic syndrome 8	PMID:24951643|PMID:28492532
12057677	TAS1R3	taste 1 receptor member 3	gene	DOID:0110994	Joubert syndrome 25		ISO	RGD:1344836	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Joubert syndrome 25	PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594
12057677	TAS1R3	taste 1 receptor member 3	gene	DOID:0111934	immunodeficiency 38		ISO	RGD:1344836	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594
12057677	TAS1R3	taste 1 receptor member 3	gene	DOID:0111935	immunodeficiency 16		ISO	RGD:1344836	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Combined immunodeficiency due to OX40 deficiency	PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594
12057677	TAS1R3	taste 1 receptor member 3	gene	DOID:12336	male infertility		ISO	RGD:1344836	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23818598
12057677	TAS1R3	taste 1 receptor member 3	gene	DOID:1827	idiopathic generalized epilepsy		ISO	RGD:1344836	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Idiopathic generalized epilepsy	PMID:28492532
12057677	TAS1R3	taste 1 receptor member 3	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1344836	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12057677	TAS1R3	taste 1 receptor member 3	gene	DOID:9007185	Shprintzen-Goldberg Craniosynostosis		ISO	RGD:1344836	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Shprintzen-Goldberg syndrome	PMID:23892090|PMID:28492532|PMID:31602316
12057677	TAS1R3	taste 1 receptor member 3	gene	DOID:9008179	Peroxisome Biogenesis Disorder, Complementation Group 7		ISO	RGD:1344836	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Peroxisome biogenesis disorder, complementation group 7	PMID:10862081|PMID:19492091|PMID:21031596|PMID:26477546|PMID:28492532|PMID:31674007|PMID:9683594
12057685	SH2B2	SH2B adaptor protein 2	gene	DOID:4852	pleomorphic xanthoastrocytoma		ISO	RGD:736917	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Pleomorphic xanthoastrocytoma	PMID:28299358
12057704	PAGR1	PAXIP1 associated glutamate rich protein 1	gene	DOID:0060019	coronin-1A deficiency		ISO	RGD:1606780	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Immunodeficiency 8	PMID:14615364|PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:2825199|PMID:28492532
12057704	PAGR1	PAXIP1 associated glutamate rich protein 1	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:1606780	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism spectrum disorder	PMID:18184952|PMID:25255310
12057704	PAGR1	PAXIP1 associated glutamate rich protein 1	gene	DOID:0060430	chromosome 16p11.2 duplication syndrome		ISO	RGD:1606780	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Chromosome 16p11.2 duplication syndrome	PMID:31690835
12057704	PAGR1	PAXIP1 associated glutamate rich protein 1	gene	DOID:0070515	chromosome 16p11.2 deletion syndrome, 593-kb		ISO	RGD:1606780	D	RGD:8554872	20230808	ClinVar		ClinVar Annotator: match by term: Proximal 16p11.2 microdeletion syndrome	PMID:25741868|PMID:31690835
12057704	PAGR1	PAXIP1 associated glutamate rich protein 1	gene	DOID:0090053	episodic kinesigenic dyskinesia 1		ISO	RGD:1606780	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Paroxysmal kinesigenic dyskinesia	PMID:14615364|PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:2825199|PMID:28492532
12057704	PAGR1	PAXIP1 associated glutamate rich protein 1	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:1606780	D	RGD:8554872	20220614	ClinVar		ClinVar Annotator: match by term: SCOLIOSIS, CONGENITAL, WITH OR WITHOUT RIB ANOMALIES | ClinVar Annotator: match by term: Spondylocostal dysostosis 5	PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734|PMID:25741868
12057704	PAGR1	PAXIP1 associated glutamate rich protein 1	gene	DOID:0112363	spondylocostal dysostosis 5		ISO	RGD:1606780	D	RGD:8554872	20230815	ClinVar		ClinVar Annotator: match by term: Spondylocostal dysostosis 5	PMID:23335591|PMID:23806086|PMID:24088041|PMID:25564734
12057704	PAGR1	PAXIP1 associated glutamate rich protein 1	gene	DOID:12849	autistic disorder		ISO	RGD:1606780	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
12057704	PAGR1	PAXIP1 associated glutamate rich protein 1	gene	DOID:12930	dilated cardiomyopathy		ISO	RGD:1606780	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Dilated Cardiomyopathy, Dominant	PMID:28492532
12057704	PAGR1	PAXIP1 associated glutamate rich protein 1	gene	DOID:3748	esophagus squamous cell carcinoma		ISO	RGD:1606780	D	RGD:9068941	20220826	RGD		mRNA, protein:decreased expression:esophagus (human)	PMID:33833989|REF_RGD_ID:153344568
12057704	PAGR1	PAXIP1 associated glutamate rich protein 1	gene	DOID:5419	schizophrenia		ISO	RGD:1606780	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Schizophrenia	PMID:21681106|PMID:30208311
12057704	PAGR1	PAXIP1 associated glutamate rich protein 1	gene	DOID:9000081	Lymphatic Metastasis	disease_progression	ISO	RGD:1606780	D	RGD:9068941	20220826	RGD		protein:decreased expression:esophagus (human)	PMID:33833989|REF_RGD_ID:153344568
12057704	PAGR1	PAXIP1 associated glutamate rich protein 1	gene	DOID:9003268	Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal		ISO	RGD:1606780	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: lethal neurodevelopmental disorder	PMID:25741868|PMID:34585832
12057704	PAGR1	PAXIP1 associated glutamate rich protein 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1606780	D	RGD:8554872	20250107	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868|PMID:34585832
12057704	PAGR1	PAXIP1 associated glutamate rich protein 1	gene	DOID:9006153	Glycogen Storage Disease XII		ISO	RGD:1606780	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Red cell aldolase deficiency	PMID:14615364|PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:2825199|PMID:28492532
12057704	PAGR1	PAXIP1 associated glutamate rich protein 1	gene	DOID:9009121	lung metastasis		ISO	RGD:1606780	D	RGD:9068941	20220826	RGD		human cells in mouse model	PMID:33833989|REF_RGD_ID:153344568
12057704	PAGR1	PAXIP1 associated glutamate rich protein 1	gene	DOID:9009225	Episodic Kinesigenic Dyskinesia		ISO	RGD:1606780	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Episodic kinesigenic dyskinesia	PMID:14615364|PMID:18836449|PMID:22515636|PMID:22623405|PMID:22726847|PMID:22744660|PMID:23077026|PMID:23363396|PMID:24372385|PMID:24811917|PMID:25073507|PMID:2825199|PMID:28492532|PMID:30980674
12057711	KLHDC1	kelch domain containing 1	gene	DOID:9004758	Brain-Lung-Thyroid Syndrome		ISO	RGD:1317857	D	RGD:8554872	20220510	ClinVar		ClinVar Annotator: match by term: Brain-lung-thyroid syndrome	PMID:25741868
12057731	TSC22D3	TSC22 domain family member 3	gene	DOID:0050542	Charcot-Marie-Tooth disease type X		ISO	RGD:1605734	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X	PMID:24528855|PMID:28492532
12057731	TSC22D3	TSC22 domain family member 3	gene	DOID:0060799	syndromic X-linked intellectual disability Lubs type		ISO	RGD:1605734	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type	PMID:25741868
12057731	TSC22D3	TSC22 domain family member 3	gene	DOID:0080600	COVID-19		ISO	RGD:1605734	D	RGD:9068941	20200709	RGD		mRNA:increased expression:CD14++ monocytes (human)	PMID:32377375|REF_RGD_ID:32716422
12057731	TSC22D3	TSC22 domain family member 3	gene	DOID:0111823	autosomal hemophilia A		ISO	RGD:1605734	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A	PMID:31690835
12057731	TSC22D3	TSC22 domain family member 3	gene	DOID:12134	factor VIII deficiency		ISO	RGD:1605734	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Factor 8 deficiency, congenital	PMID:31690835
12057731	TSC22D3	TSC22 domain family member 3	gene	DOID:12336	male infertility		ISO	RGD:1605734	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22556341
12057731	TSC22D3	TSC22 domain family member 3	gene	DOID:12849	autistic disorder		ISO	RGD:1605734	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
12057731	TSC22D3	TSC22 domain family member 3	gene	DOID:2018	hyperinsulinism		ISO	RGD:1605734	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22556341
12057731	TSC22D3	TSC22 domain family member 3	gene	DOID:2519	testicular disease		ISO	RGD:1605734	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22556341
12057731	TSC22D3	TSC22 domain family member 3	gene	DOID:9001981	Weight Loss		ISO	RGD:1605734	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22556341
12057754	UTP14A	UTP14A small subunit processome component	gene	DOID:0050542	Charcot-Marie-Tooth disease type X		ISO	RGD:1347961	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Charcot-Marie-Tooth Neuropathy X	PMID:17436253|PMID:24357419|PMID:28492532
12057754	UTP14A	UTP14A small subunit processome component	gene	DOID:0060799	syndromic X-linked intellectual disability Lubs type		ISO	RGD:1347961	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type	PMID:25741868
12057754	UTP14A	UTP14A small subunit processome component	gene	DOID:0060824	syndromic X-linked intellectual disability Raymond type		ISO	RGD:1347961	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Raymond type	PMID:17436253|PMID:24357419|PMID:28492532
12057754	UTP14A	UTP14A small subunit processome component	gene	DOID:0111823	autosomal hemophilia A		ISO	RGD:1347961	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A	PMID:31690835
12057754	UTP14A	UTP14A small subunit processome component	gene	DOID:12134	factor VIII deficiency		ISO	RGD:1347961	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Factor 8 deficiency, congenital	PMID:31690835
12057754	UTP14A	UTP14A small subunit processome component	gene	DOID:12849	autistic disorder		ISO	RGD:1347961	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autism	PMID:21681106|PMID:30208311
12057773	QKI	QKI, KH domain containing RNA binding	gene	DOID:3070	high grade glioma		ISO	RGD:1319346	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26829751
12057773	QKI	QKI, KH domain containing RNA binding	gene	DOID:3213	demyelinating disease		ISO	RGD:1319346	D	RGD:9068941	20220609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16245024
12057773	QKI	QKI, KH domain containing RNA binding	gene	DOID:9002763	Experimental Autoimmune Encephalomyelitis		ISO	RGD:1584886	D	RGD:9068941	20200609	RGD			PMID:22740327|REF_RGD_ID:10045997
12057787	MAFG	MAF bZIP transcription factor G	gene	DOID:0080600	COVID-19		ISO	RGD:1352039	D	RGD:9068941	20200618	RGD		mRNA:increased expression:peripheral blood mononuclear cell (human)	PMID:32228226|REF_RGD_ID:28912744
12057787	MAFG	MAF bZIP transcription factor G	gene	DOID:1852	intrahepatic cholestasis		ISO	RGD:1352039	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20146260
12057787	MAFG	MAF bZIP transcription factor G	gene	DOID:5683	hereditary breast ovarian cancer syndrome		ISO	RGD:1352039	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Hereditary breast ovarian cancer syndrome	PMID:25741868
12057803	ARSB	arylsulfatase B	gene	DOID:0060041	autism spectrum disorder		ISO	RGD:737370	D	RGD:9068941	20230209	CTD		CTD Direct Evidence: marker/mechanism	PMID:35663546
12057803	ARSB	arylsulfatase B	gene	DOID:0060540	Hermansky-Pudlak syndrome 2		ISO	RGD:737370	D	RGD:8554872	20230307	ClinVar		ClinVar Annotator: match by term: Hermansky-Pudlak syndrome 2	PMID:16507770|PMID:23403622|PMID:28492532
12057803	ARSB	arylsulfatase B	gene	DOID:10581	metachromatic leukodystrophy		ISO	RGD:737370	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Metachromatic leukodystrophy	PMID:10923267|PMID:11939792|PMID:14974081|PMID:1550123|PMID:16435196|PMID:17458871|PMID:17643332|PMID:18406185|PMID:21514195|PMID:21791832|PMID:21917494|PMID:22133300|PMID:22441840|PMID:23557332|PMID:23657977|PMID:24221504|PMID:24373060|PMID:24767253|PMID:25741868|PMID:28492532|PMID:30118150|PMID:8116615|PMID:8651289
12057803	ARSB	arylsulfatase B	gene	DOID:12800	mucopolysaccharidosis VI		IAGP		D	RGD:12801476	20210603	OMIA		Mucopolysaccharidosis VI	PMID:8558492|PMID:22329490|PMID:23121383|PMID:25750448|PMID:29157190|PMID:32219101|PMID:32985704
12057803	ARSB	arylsulfatase B	gene	DOID:12800	mucopolysaccharidosis VI		ISO	RGD:737370	D	RGD:7240710	20180130	OMIM			
12057803	ARSB	arylsulfatase B	gene	DOID:12800	mucopolysaccharidosis VI		ISO	RGD:737370	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Mucopolysaccharidosis type 6 | ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, intermediate | ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, mild | ClinVar Annotator: match by term: Mucopolysaccharidosis, type vi, severe	PMID:10036316|PMID:10206678|PMID:10738004|PMID:10923267|PMID:11668612|PMID:11802522|PMID:11939792|PMID:1301949|PMID:14974081|PMID:15000815|PMID:1550123|PMID:15603718|PMID:15979036|PMID:16199547|PMID:16435196|PMID:16949067|PMID:17161971|PMID:1718978|PMID:17458871|PMID:17576681|PMID:17643332|PMID:17672828|PMID:18248830|PMID:18406185|PMID:18486607|PMID:19259130|PMID:19763152|PMID:19968667|PMID:20143913|PMID:20307669|PMID:21514195|PMID:21791831|PMID:21791832|PMID:21813902|PMID:21917494|PMID:21930407|PMID:21996138|PMID:22133300|PMID:22406018|PMID:22441840|PMID:22971959|PMID:22976768|PMID:23023219|PMID:23430861|PMID:23458163|PMID:23557332|PMID:23633437|PMID:23657977|PMID:23855929|PMID:23949968|PMID:24033266|PMID:24053568|PMID:24107440|PMID:24221504|PMID:24243352|PMID:24262793|PMID:24373060|PMID:24677745|PMID:24767253|PMID:24798265|PMID:24875751|PMID:25060283|PMID:25190157|PMID:25640679|PMID:25654180|PMID:25741868|PMID:25797215|PMID:26287674|PMID:26450354|PMID:26586959|PMID:26609033|PMID:26909334|PMID:26910003|PMID:26937411|PMID:27797586|PMID:27826022|PMID:28492532|PMID:28552677|PMID:28649537|PMID:28831385|PMID:28858097|PMID:28884960|PMID:28914427|PMID:29202552|PMID:29620724|PMID:30083803|PMID:30118150|PMID:30524696|PMID:30809705|PMID:30982216|PMID:31009684|PMID:32075597|PMID:32860008|PMID:33163362|PMID:33209960|PMID:33673364|PMID:33985463|PMID:34435740|PMID:34573925|PMID:34708937|PMID:34813777|PMID:35005816|PMID:35118118|PMID:35768874|PMID:36213247|PMID:37811045|PMID:4974081|PMID:7733883|PMID:8116615|PMID:8125475|PMID:8144552|PMID:8541342|PMID:8651289|PMID:8723688|PMID:8752530|PMID:9536098
12057803	ARSB	arylsulfatase B	gene	DOID:12800	mucopolysaccharidosis VI	susceptibility	ISO	RGD:2158	D	RGD:9068941	20200609	RGD			PMID:8575749|REF_RGD_ID:631738
12057803	ARSB	arylsulfatase B	gene	DOID:12800	mucopolysaccharidosis VI	susceptibility	ISO	RGD:737370	D	RGD:9068941	20200609	RGD			PMID:1550123|REF_RGD_ID:1599228
12057803	ARSB	arylsulfatase B	gene	DOID:12800	mucopolysaccharidosis VI	treatment	ISO	RGD:2158	D	RGD:9068941	20201001	RGD			PMID:21887218|REF_RGD_ID:39131283
12057803	ARSB	arylsulfatase B	gene	DOID:5419	schizophrenia		ISO	RGD:737370	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Schizophrenia	
12057803	ARSB	arylsulfatase B	gene	DOID:630	genetic disease		ISO	RGD:737370	D	RGD:8554872	20241008	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:17458871|PMID:23557332|PMID:25654180|PMID:25741868|PMID:26450354|PMID:28492532|PMID:28552677|PMID:30118150|PMID:33209960
12057803	ARSB	arylsulfatase B	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:737370	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12057820	CPLX4	complexin 4	gene	DOID:0060842	isolated microphthalmia 3		ISO	RGD:1316951	D	RGD:8554872	20230314	ClinVar		ClinVar Annotator: match by term: Isolated microphthalmia 3	PMID:14662654|PMID:18783408|PMID:19935664|PMID:21778431|PMID:24033328|PMID:26686525|PMID:28492532
12057820	CPLX4	complexin 4	gene	DOID:0111988	immunodeficiency 12		ISO	RGD:1316951	D	RGD:8554872	20230411	ClinVar		ClinVar Annotator: match by term: Combined immunodeficiency due to MALT1 deficiency	PMID:28492532
12057827	NAT8L	N-acetyltransferase 8 like	gene	DOID:10907	microcephaly		ISO	RGD:1602409	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:25741868
12057827	NAT8L	N-acetyltransferase 8 like	gene	DOID:1856	cherubism		ISO	RGD:1602409	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Fibrous dysplasia of jaw	PMID:28492532
12057827	NAT8L	N-acetyltransferase 8 like	gene	DOID:9004612	N-Acetylaspartate Deficiency		ISO	RGD:1602409	D	RGD:7240710	20180130	OMIM			
12057827	NAT8L	N-acetyltransferase 8 like	gene	DOID:9004612	N-Acetylaspartate Deficiency		ISO	RGD:1602409	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: N-acetylaspartate deficiency	PMID:19807691
12057846	CDH4	cadherin 4	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:1343938	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	
12057846	CDH4	cadherin 4	gene	DOID:9007097	Microcephaly with Simplified Gyral Pattern		ISO	RGD:1343938	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Simplified gyral pattern	PMID:29706646
12057871	MIR10B	microRNA mir-10b	gene	DOID:0090022	split hand-foot malformation 5		ISO	RGD:1352164	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Split hand-foot malformation 5	PMID:25741868
12057871	MIR10B	microRNA mir-10b	gene	DOID:2921	glomerulonephritis		ISO	RGD:1352164	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:25758243
12057871	MIR10B	microRNA mir-10b	gene	DOID:9000403	Animal Mammary Neoplasms		ISO	RGD:1352164	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24447120
12057871	MIR10B	microRNA mir-10b	gene	DOID:9007383	Chemical and Drug Induced Liver Injury		ISO	RGD:1352164	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22363424
12057871	MIR10B	microRNA mir-10b	gene	DOID:9007838	Myocardial Reperfusion Injury		ISO	RGD:1352164	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22050707
12057871	MIR10B	microRNA mir-10b	gene	DOID:9008939	Breast Neoplasms		ISO	RGD:1352164	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:20099276
12057871	MIR10B	microRNA mir-10b	gene	DOID:9352	type 2 diabetes mellitus		ISO	RGD:1352164	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:28545106
12057871	MIR10B	microRNA mir-10b	gene	DOID:9452	steatotic liver disease		ISO	RGD:1352164	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:22363424
12057924	FDFT1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:14004	thoracic aortic aneurysm		ISO	RGD:731891	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Thoracic aortic aneurysm	PMID:32748548
12057924	FDFT1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:5062	phencyclidine abuse		ISO	RGD:731891	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17205118
12057924	FDFT1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:684	hepatocellular carcinoma		ISO	RGD:731891	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:21147110
12057924	FDFT1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:83	cataract		ISO	RGD:61834	D	RGD:9068941	20200609	RGD			PMID:16440058|REF_RGD_ID:1626611
12057924	FDFT1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:83	cataract		ISO	RGD:62125	D	RGD:9068941	20200609	RGD			PMID:16440058|REF_RGD_ID:1626611
12057924	FDFT1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:9004429	Neurodevelopmental Disorders		ISO	RGD:731891	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Neurodevelopmental disorder	PMID:25741868
12057924	FDFT1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:9005632	Cocaine-Related Disorders		ISO	RGD:731891	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17205118
12057924	FDFT1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:9007396	Atrioventricular Septal Defect 4		ISO	RGD:731891	D	RGD:8554872	20240709	ClinVar		ClinVar Annotator: match by term: Atrioventricular septal defect 4	PMID:19353638|PMID:21933911|PMID:22318994|PMID:24127225|PMID:25205790|PMID:25516202|PMID:28492532|PMID:32748548
12057924	FDFT1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:9007732	Squalene Synthase Deficiency		ISO	RGD:731891	D	RGD:7240710	20190626	OMIM			
12057924	FDFT1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:9007732	Squalene Synthase Deficiency		ISO	RGD:731891	D	RGD:8554872	20240409	ClinVar		ClinVar Annotator: match by term: FDFT1-related condition | ClinVar Annotator: match by term: Squalene synthase deficiency	PMID:25741868|PMID:28492532|PMID:29909962|PMID:32027475
12057924	FDFT1	farnesyl-diphosphate farnesyltransferase 1	gene	DOID:9505	cannabis abuse		ISO	RGD:731891	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:17205118
12057961	GAS2	growth arrest specific 2	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1348959	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
12057961	GAS2	growth arrest specific 2	gene	DOID:10003	sensorineural hearing loss		ISO	RGD:1558248	D	RGD:9068941	20220825	MouseDO			
12057961	GAS2	growth arrest specific 2	gene	DOID:1059	intellectual disability		ISO	RGD:1348959	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12057961	GAS2	growth arrest specific 2	gene	DOID:9003216	Salivary Gland Neoplasms		ISO	RGD:1348959	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:16762588
12057961	GAS2	growth arrest specific 2	gene	DOID:9008854	Autosomal Recessive Nonsyndromic Deafness 125		ISO	RGD:1348959	D	RGD:7240710	20240717	OMIM			
12057961	GAS2	growth arrest specific 2	gene	DOID:9008854	Autosomal Recessive Nonsyndromic Deafness 125		ISO	RGD:1348959	D	RGD:8554872	20240806	ClinVar		ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL RECESSIVE 125	PMID:33964205
12057976	CHN1	chimerin 1	gene	DOID:0060765	autosomal dominant Robinow syndrome 2		ISO	RGD:732086	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Autosomal dominant Robinow syndrome 2	
12057976	CHN1	chimerin 1	gene	DOID:0090022	split hand-foot malformation 5		ISO	RGD:732086	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Split hand-foot malformation 5	PMID:25741868
12057976	CHN1	chimerin 1	gene	DOID:12557	Duane retraction syndrome		ISO	RGD:732086	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Duane retraction syndrome	PMID:25741868
12057976	CHN1	chimerin 1	gene	DOID:13501	Moebius syndrome		ISO	RGD:732086	D	RGD:8554872	20230711	ClinVar		ClinVar Annotator: match by term: Oromandibular-limb hypogenesis spectrum	
12057976	CHN1	chimerin 1	gene	DOID:2785	Dandy-Walker syndrome		ISO	RGD:732086	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Dandy-Walker syndrome	PMID:25741868
12057976	CHN1	chimerin 1	gene	DOID:630	genetic disease		ISO	RGD:732086	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Inborn genetic diseases	PMID:18653847|PMID:25741868
12057976	CHN1	chimerin 1	gene	DOID:9003590	Duane Retraction Syndrome 2		ISO	RGD:732086	D	RGD:7240710	20200304	OMIM			
12057976	CHN1	chimerin 1	gene	DOID:9003590	Duane Retraction Syndrome 2		ISO	RGD:732086	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: CHN1-related condition | ClinVar Annotator: match by term: Duane retraction syndrome 2	PMID:10577917|PMID:10942112|PMID:17197532|PMID:18653847|PMID:20535495|PMID:21555619|PMID:25741868|PMID:28492532|PMID:39033378
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0040084	Streptococcus pneumonia	exacerbates	ISO	RGD:10199	D	RGD:9068941	20210409	RGD			PMID:27421701|REF_RGD_ID:126779562
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0050671	female breast cancer	susceptibility	ISO	RGD:1606040	D	RGD:9068941	20220609	RGD		DNA:missense mutation:cds: (human)	PMID:30303537|REF_RGD_ID:152995259
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0050746	mantle cell lymphoma		ISO	RGD:1606040	D	RGD:8554872	20220607	ClinVar		ClinVar Annotator: match by term: Mantle cell lymphoma	PMID:10706620|PMID:23807571|PMID:25614872|PMID:28492532
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0050749	peripheral T-cell lymphoma		ISO	RGD:1606040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:24413734
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0050753	cerebellar ataxia		ISO	RGD:1606040	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Cerebellar ataxia	PMID:12810666|PMID:23807571|PMID:25614872|PMID:25741868|PMID:28488180|PMID:28492532|PMID:29909963|PMID:31050087|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0050866	oral squamous cell carcinoma	disease_progression	ISO	RGD:1606040	D	RGD:9068941	20210903	RGD		protein:increased expression:mucosa of oral region (human)	PMID:18288488|PMID:29928356|REF_RGD_ID:150340604|REF_RGD_ID:150340709
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0050880	Koolen de Vries syndrome		ISO	RGD:1606040	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Koolen-de Vries syndrome	PMID:10817650|PMID:12815592|PMID:16238588|PMID:17124347|PMID:19691550|PMID:19779456|PMID:20840352|PMID:21445571|PMID:21933854|PMID:23322442|PMID:23774824|PMID:25741868|PMID:26898890|PMID:27664052|PMID:28492532|PMID:28779002|PMID:29625052|PMID:29915322|PMID:30339652|PMID:30772474|PMID:31159747|PMID:31285527|PMID:9043869
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0060058	lymphoma		ISO	RGD:1593265	D	RGD:9068941	20200609	RGD		DNA:deletion:exon:	PMID:28007901|REF_RGD_ID:12879399
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0060058	lymphoma		ISO	RGD:1593265	D	RGD:9068941	20200609	RGD		DNA:missense mutation:cds:	PMID:27895165|REF_RGD_ID:12879393
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0060061	primary cutaneous T-cell non-Hodgkin lymphoma		ISO	RGD:1606040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:26192916
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0060071	pre-malignant neoplasm		ISO	RGD:1593265	D	RGD:9068941	20200609	RGD		protein:decreased expression:hepatocyte	PMID:11751435|REF_RGD_ID:1599367
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0070271	Lynch syndrome 1		ISO	RGD:1606040	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Lynch syndrome 1	PMID:25741868
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0070614	chromosome 11 partial duplication syndrome		ISO	RGD:1606040	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Distal trisomy 11q	PMID:25741868
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0080158	herpes simplex virus keratitis	ameliorates	ISO	RGD:10199	D	RGD:9068941	20210416	RGD			PMID:24370835|REF_RGD_ID:126781690
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0080202	adenoid cystic carcinoma		ISO	RGD:1606040	D	RGD:9068941	20200609	CTD		CTD Direct Evidence: marker/mechanism	PMID:23685749
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0080875	IDH-mutant anaplastic astrocytoma		ISO	RGD:1606040	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Astrocytoma IDH-mutant	PMID:19404735|PMID:19781682|PMID:20305132|PMID:23555315|PMID:25085752|PMID:25186627|PMID:25503501|PMID:25741868|PMID:26467025|PMID:26580448|PMID:26901136|PMID:28135145|PMID:28492532|PMID:28652578|PMID:28717660|PMID:28779002|PMID:29659569|PMID:30256826|PMID:30303537|PMID:30613976|PMID:31159747|PMID:31742824|PMID:32113160|PMID:32522261|PMID:33471991|PMID:34262154|PMID:34646395|PMID:35264596|PMID:37262986
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0080904	astroblastoma, MN1-altered		ISO	RGD:1606040	D	RGD:8554872	20240202	ClinVar		ClinVar Annotator: match by term: Astroblastoma, MN1-altered	PMID:17344846|PMID:20305132|PMID:25741868|PMID:25980754|PMID:26206375|PMID:26467025|PMID:26689913|PMID:26787654|PMID:28135145|PMID:28492532|PMID:28652578|PMID:28779002|PMID:30306255|PMID:30441849|PMID:31159747|PMID:31920950|PMID:32606146|PMID:33471991|PMID:34284872|PMID:35886069
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0081042	T-cell prolymphocytic leukemia		ISO	RGD:1606040	D	RGD:8554872	20240312	ClinVar		ClinVar Annotator: match by term: T-cell prolymphocytic leukemia	PMID:10817650|PMID:11382771|PMID:11805335|PMID:11830610|PMID:12072552|PMID:12195425|PMID:12552559|PMID:12969974|PMID:14562025|PMID:16652348|PMID:16832357|PMID:16958054|PMID:17001622|PMID:18575927|PMID:18634022|PMID:19431188|PMID:19781682|PMID:20301790|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21933854|PMID:22529920|PMID:22585167|PMID:22649200|PMID:23807571|PMID:24088041|PMID:24733792|PMID:25186627|PMID:25614872|PMID:25741868|PMID:25980754|PMID:26467025|PMID:26506520|PMID:26556299|PMID:26633545|PMID:26662178|PMID:26681312|PMID:27528516|PMID:27595995|PMID:27798748|PMID:27884168|PMID:27978560|PMID:27988859|PMID:27989354|PMID:28492532|PMID:28779002|PMID:28873162|PMID:29719442|PMID:29915382|PMID:30549301|PMID:31447099|PMID:31948886|PMID:32338768|PMID:32427313|PMID:32748564|PMID:32853339|PMID:33436325|PMID:33439686|PMID:33471991|PMID:33509806|PMID:34117267|PMID:6504056|PMID:7792600|PMID:8755918|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:9150358|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9463314|PMID:9537233|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:0111765	X-linked cardiac valvular dysplasia		ISO	RGD:1606040	D	RGD:8554872	20241112	ClinVar		ClinVar Annotator: match by term: Cardiac valvular dysplasia, X-linked	PMID:10330348|PMID:12815592|PMID:19691550|PMID:21665257|PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532
12057995	ATM	ATM serine/threonine kinase	gene	DOID:10017	multiple endocrine neoplasia type 1		ISO	RGD:1606040	D	RGD:8554872	20231010	ClinVar		ClinVar Annotator: match by term: Multiple endocrine neoplasia, type 1	PMID:25741868
12057995	ATM	ATM serine/threonine kinase	gene	DOID:10283	prostate cancer		ISO	RGD:1606040	D	RGD:8554872	20230110	ClinVar		ClinVar Annotator: match by term: Malignant tumor of prostate	PMID:23807571|PMID:25614872|PMID:25741868|PMID:28492532
12057995	ATM	ATM serine/threonine kinase	gene	DOID:10534	stomach cancer		ISO	RGD:1606040	D	RGD:8554872	20240910	ClinVar		ClinVar Annotator: match by term: Gastric cancer | ClinVar Annotator: match by term: Stomach cancer	PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10706620|PMID:10817650|PMID:10864201|PMID:10873394|PMID:10980530|PMID:11298136|PMID:11756177|PMID:12149228|PMID:12552559|PMID:12552566|PMID:12673797|PMID:12697903|PMID:12745884|PMID:12810666|PMID:12815592|PMID:15039971|PMID:15101044|PMID:15164409|PMID:15196260|PMID:15390180|PMID:15843990|PMID:15928302|PMID:16199547|PMID:16266405|PMID:16941484|PMID:17124347|PMID:17376192|PMID:17576681|PMID:17910737|PMID:17968022|PMID:18321536|PMID:18431795|PMID:18560558|PMID:18573109|PMID:18634022|PMID:19404735|PMID:19431188|PMID:19535770|PMID:19691550|PMID:19781682|PMID:20153123|PMID:20301790|PMID:21445571|PMID:21459046|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21778326|PMID:21792198|PMID:21933854|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22213089|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22649200|PMID:23264026|PMID:23322442|PMID:23454770|PMID:23561644|PMID:23566627|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23807571|PMID:24172824|PMID:24368146|PMID:24405665|PMID:24763289|PMID:24789685|PMID:24935205|PMID:24954719|PMID:25037873|PMID:25077176|PMID:25122203|PMID:25186627|PMID:25303977|PMID:25374739|PMID:25479140|PMID:25525159|PMID:25614872|PMID:25625042|PMID:25741868|PMID:26022348|PMID:26094658|PMID:26098866|PMID:26270727|PMID:26439923|PMID:26467025|PMID:26506520|PMID:26628246|PMID:26677768|PMID:26681312|PMID:26846839|PMID:26896183|PMID:27121310|PMID:27159176|PMID:27433846|PMID:27664052|PMID:27732944|PMID:27779110|PMID:27884168|PMID:27913932|PMID:27989354|PMID:28126470|PMID:28139868|PMID:28152038|PMID:28195393|PMID:28281021|PMID:28492532|PMID:28497333|PMID:28724667|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28843361|PMID:29368341|PMID:29478780|PMID:29482223|PMID:29506128|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29731985|PMID:29752822|PMID:29906526|PMID:29909963|PMID:29922827|PMID:29946849|PMID:30093976|PMID:30128536|PMID:30159786|PMID:30287823|PMID:30322717|PMID:30338439|PMID:30402232|PMID:30549301|PMID:30607632|PMID:30620386|PMID:30697212|PMID:30772474|PMID:30816533|PMID:30982232|PMID:31012270|PMID:31050087|PMID:31118792|PMID:31139954|PMID:31214711|PMID:31263571|PMID:31382929|PMID:31447099|PMID:31472684|PMID:31589614|PMID:31611883|PMID:31691010|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31843900|PMID:31882575|PMID:31948886|PMID:32002120|PMID:32068069|PMID:32091409|PMID:32183364|PMID:32338768|PMID:32427313|PMID:32471518|PMID:32521533|PMID:32566746|PMID:32694154|PMID:32754152|PMID:32810930|PMID:32853339|PMID:32885271|PMID:32918381|PMID:32962506|PMID:32980694|PMID:33239428|PMID:33280026|PMID:33436325|PMID:33471991|PMID:33552952|PMID:34247626|PMID:34377931|PMID:34680501|PMID:34755017|PMID:34873480|PMID:34949663|PMID:35220195|PMID:35260754|PMID:36029002|PMID:36704080|PMID:36988593|PMID:37239058|PMID:37445923|PMID:38355628|PMID:7792600|PMID:8698354|PMID:8755918|PMID:8808599|PMID:8845835|PMID:9334731|PMID:9443866|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9600235|PMID:9711876|PMID:9872980|PMID:9887333
12057995	ATM	ATM serine/threonine kinase	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1606040	D	RGD:9068941	20210827	RGD		protein:decreased expression:mucosa of stomach (human)	PMID:23649938|REF_RGD_ID:150340700
12057995	ATM	ATM serine/threonine kinase	gene	DOID:10534	stomach cancer	severity	ISO	RGD:1606040	D	RGD:9068941	20210903	RGD		protein:decreased phosphorylation:stomach (human)	PMID:17928013|REF_RGD_ID:150340715
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1059	intellectual disability		ISO	RGD:1606040	D	RGD:8554872	20220420	ClinVar		ClinVar Annotator: match by term: Intellectual disability	
12057995	ATM	ATM serine/threonine kinase	gene	DOID:10652	Alzheimer's disease	disease_progression	ISO	RGD:1606040	D	RGD:9068941	20200609	RGD			PMID:23861893|REF_RGD_ID:10047419
12057995	ATM	ATM serine/threonine kinase	gene	DOID:10907	microcephaly		ISO	RGD:1606040	D	RGD:8554872	20240507	ClinVar		ClinVar Annotator: match by term: Microcephaly	PMID:19781682|PMID:25741868|PMID:28492532|PMID:30287823|PMID:31871109|PMID:32068069|PMID:32566746|PMID:33471991|PMID:36243179
12057995	ATM	ATM serine/threonine kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606040	D	RGD:8554872	20240319	ClinVar		ClinVar Annotator: match by term: Bladder cancer | ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:10864201|PMID:10980530|PMID:12400598|PMID:12815592|PMID:14695534|PMID:15039971|PMID:15843990|PMID:16199547|PMID:16941484|PMID:17124347|PMID:17910737|PMID:18560558|PMID:19431188|PMID:19691550|PMID:20308662|PMID:20966255|PMID:21150274|PMID:21665257|PMID:22649200|PMID:23322442|PMID:23454770|PMID:23807571|PMID:24549055|PMID:24763289|PMID:25077176|PMID:25374739|PMID:25614872|PMID:25741868|PMID:26628246|PMID:26757417|PMID:26896183|PMID:27153395|PMID:28492532|PMID:28724667|PMID:28779002|PMID:29360161|PMID:29371908|PMID:29506128|PMID:29922827|PMID:30287823|PMID:30303537|PMID:30549301|PMID:30772474|PMID:30982232|PMID:31050087|PMID:31350202|PMID:32068069|PMID:32566746|PMID:32676327|PMID:33048355|PMID:33471991|PMID:36988593|PMID:8755918|PMID:9043869|PMID:9450874|PMID:9463314|PMID:9497252|PMID:9733514
12057995	ATM	ATM serine/threonine kinase	gene	DOID:11054	urinary bladder cancer		ISO	RGD:1606040	D	RGD:8554872	20241210	ClinVar		ClinVar Annotator: match by term: Malignant tumor of urinary bladder	PMID:10864201|PMID:10980530|PMID:12400598|PMID:12815592|PMID:14695534|PMID:15039971|PMID:15843990|PMID:16199547|PMID:16941484|PMID:17124347|PMID:17910737|PMID:18560558|PMID:19431188|PMID:19691550|PMID:20308662|PMID:20966255|PMID:21150274|PMID:21665257|PMID:22649200|PMID:23322442|PMID:23454770|PMID:23807571|PMID:24549055|PMID:24763289|PMID:25077176|PMID:25374739|PMID:25614872|PMID:25741868|PMID:26628246|PMID:26757417|PMID:26896183|PMID:27153395|PMID:28492532|PMID:28724667|PMID:28779002|PMID:29360161|PMID:29371908|PMID:29506128|PMID:29922827|PMID:30287823|PMID:30303537|PMID:30549301|PMID:30772474|PMID:30982232|PMID:31050087|PMID:31350202|PMID:32068069|PMID:32566746|PMID:32676327|PMID:33048355|PMID:33471991|PMID:34489640|PMID:36988593|PMID:8755918|PMID:9043869|PMID:9450874|PMID:9463314|PMID:9497252|PMID:9733514
12057995	ATM	ATM serine/threonine kinase	gene	DOID:11476	osteoporosis		ISO	RGD:10199	D	RGD:9068941	20200609	RGD			PMID:16644862|REF_RGD_ID:10047420
12057995	ATM	ATM serine/threonine kinase	gene	DOID:1240	leukemia		ISO	RGD:1593265	D	RGD:9068941	20200609	RGD		DNA:deletion:exon:	PMID:28007901|REF_RGD_ID:12879399
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:7240710	20241204	OMIM			
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20220719	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10464642|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15159313|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17535973|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:28423360|PMID:28423363|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28956312|PMID:28975018|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30713859|PMID:30713931|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173964|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:3280694|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32958592|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33047316|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20220809	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33980423|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34453918|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34820595|PMID:34994613|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17535973|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:28423363|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28956312|PMID:28975018|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30713859|PMID:30713931|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173964|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:3280694|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32958592|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33047316|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20221011	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33980423|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34453918|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34820595|PMID:34994613|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25232094|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27959900|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28956312|PMID:28975018|PMID:28975465|PMID:29036293|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29909963|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30613976|PMID:30620386|PMID:30651582|PMID:30713859|PMID:30713931|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31173964|PMID:31206626|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31780696|PMID:31784482|PMID:31784493|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32019284|PMID:32039725|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152|PMID:32756499|PMID:3280694|PMID:32810930|PMID:32832836|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32936981|PMID:32958592|PMID:32959997|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33047316|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20221108	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33919281|PMID:33980423|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34262154|PMID:34270679|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34453918|PMID:34573280|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34820595|PMID:34994613|PMID:35039564|PMID:35365198|PMID:35806449|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17517479|PMID:17535973|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:19431188|PMID:19440741|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193|PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27200287|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|PMID:29778231|PMID:29785153|PMID:29789584|PMID:29866652|PMID:29888287|PMID:29895855|PMID:29906526|PMID:29909963|PMID:29915322|PMID:29915382|PMID:29922827|PMID:29945567|PMID:29946849|PMID:29954938|PMID:29958926|PMID:29961768|PMID:30067863|PMID:30086788|PMID:30093976|PMID:30128536|PMID:30154229|PMID:30181556|PMID:30192042|PMID:30197789|PMID:30214756|PMID:30233647|PMID:30253992|PMID:30256826|PMID:30262796|PMID:30267214|PMID:30274973|PMID:30283815|PMID:30287823|PMID:30303537|PMID:30306255|PMID:30309722|PMID:30311369|PMID:30322717|PMID:30338439|PMID:30339652|PMID:30340782|PMID:30363071|PMID:30374176|PMID:30385609|PMID:30389154|PMID:30402232|PMID:30420857|PMID:30426508|PMID:30441849|PMID:30447919|PMID:30455982|PMID:30482293|PMID:30504431|PMID:30537493|PMID:30541756|PMID:30549301|PMID:30553997|PMID:30563988|PMID:30579816|PMID:30584090|PMID:30607632|PMID:30612635|PMID:30613976|PMID:30620386|PMID:30625039|PMID:30639167|PMID:30651582|PMID:30662270|PMID:30666157|PMID:30697212|PMID:30713859|PMID:30713931|PMID:30716324|PMID:30723761|PMID:30730459|PMID:30772474|PMID:30814645|PMID:30816533|PMID:30819809|PMID:30833958|PMID:30851086|PMID:30883245|PMID:30888062|PMID:30927251|PMID:30938815|PMID:30957677|PMID:30963573|PMID:30982232|PMID:30995915|PMID:31050087|PMID:31054420|PMID:31097817|PMID:31101757|PMID:31118792|PMID:31125277|PMID:31130284|PMID:31139954|PMID:31159747|PMID:31160347|PMID:31169336|PMID:31173646|PMID:31173964|PMID:31206626|PMID:31214250|PMID:31214711|PMID:31216378|PMID:31227566|PMID:31248605|PMID:31263571|PMID:31273614|PMID:31275557|PMID:31285527|PMID:31325073|PMID:31341520|PMID:31350202|PMID:31352369|PMID:31360874|PMID:31382929|PMID:31403082|PMID:31407689|PMID:31415627|PMID:31422574|PMID:31428572|PMID:31429931|PMID:31432501|PMID:31447099|PMID:31465090|PMID:31472684|PMID:31497750|PMID:31589614|PMID:31611883|PMID:31617914|PMID:31638252|PMID:31658756|PMID:31666926|PMID:31671381|PMID:31691010|PMID:31719806|PMID:31729406|PMID:31731261|PMID:31741144|PMID:31742824|PMID:31776720|PMID:31780696|PMID:31780705|PMID:31784482|PMID:31784493|PMID:31794323|PMID:31811167|PMID:31815095|PMID:31843900|PMID:31867841|PMID:31871109|PMID:31882575|PMID:31911633|PMID:31919090|PMID:31920950|PMID:31921190|PMID:31921681|PMID:31942411|PMID:31948886|PMID:31970404|PMID:32002120|PMID:32008151|PMID:32019284|PMID:32039725|PMID:32066632|PMID:32068069|PMID:32081490|PMID:32091409|PMID:32107087|PMID:32125938|PMID:32133419|PMID:3217261|PMID:32172615|PMID:32183301|PMID:32183364|PMID:32255556|PMID:32283892|PMID:32295079|PMID:32325837|PMID:32338768|PMID:32365829|PMID:32427313|PMID:32471518|PMID:32488064|PMID:32521533|PMID:32522261|PMID:32531373|PMID:32566746|PMID:32601921|PMID:32606146|PMID:32658311|PMID:32659497|PMID:32676327|PMID:32694154|PMID:32748564|PMID:32754152
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20221206	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency	PMID:32756499|PMID:32772458|PMID:32775531|PMID:32782288|PMID:3280694|PMID:32810930|PMID:32830346|PMID:32832836|PMID:32842532|PMID:32853339|PMID:32854451|PMID:32860008|PMID:32866190|PMID:32885271|PMID:32901917|PMID:32906206|PMID:32918381|PMID:32923906|PMID:32936981|PMID:32957588|PMID:32958592|PMID:32959997|PMID:32963463|PMID:32973888|PMID:32980694|PMID:32984025|PMID:32986223|PMID:33011440|PMID:33047316|PMID:33050356|PMID:33054084|PMID:33084218|PMID:33095795|PMID:33098801|PMID:33128190|PMID:33134171|PMID:33150793|PMID:33163394|PMID:33181636|PMID:33280026|PMID:33302456|PMID:33309985|PMID:33376610|PMID:3338800|PMID:33395407|PMID:33421217|PMID:33436325|PMID:3347199|PMID:33471991|PMID:33479248|PMID:33509806|PMID:33547824|PMID:33552952|PMID:33558524|PMID:33588785|PMID:33606809|PMID:33608381|PMID:33630411|PMID:33646313|PMID:33747920|PMID:33750258|PMID:33785725|PMID:33850299|PMID:33875564|PMID:33893081|PMID:33919281|PMID:33939675|PMID:33980423|PMID:34067464|PMID:34130653|PMID:34204722|PMID:34250389|PMID:34262154|PMID:34270679|PMID:34284872|PMID:34299313|PMID:34359559|PMID:34371384|PMID:34377931|PMID:34399810|PMID:34426522|PMID:34433815|PMID:34445196|PMID:34453918|PMID:34573280|PMID:34600502|PMID:34606182|PMID:34646395|PMID:34653963|PMID:34761457|PMID:34771661|PMID:34820595|PMID:34873480|PMID:34884835|PMID:34994613|PMID:35039564|PMID:35047863|PMID:35078243|PMID:35201558|PMID:35260754|PMID:35284771|PMID:35309086|PMID:35365198|PMID:35402282|PMID:35467778|PMID:35483985|PMID:35666082|PMID:35716007|PMID:35806449|PMID:35980532|PMID:6504056|PMID:7792600|PMID:8321536|PMID:8659541|PMID:8665503|PMID:8698354|PMID:8755918|PMID:8789452|PMID:8797579|PMID:8808599|PMID:8845835|PMID:8923007|PMID:8968760|PMID:9000145|PMID:9043869|PMID:9054948|PMID:9121450|PMID:9150358|PMID:9244351|PMID:9259193|PMID:9288106|PMID:9334731|PMID:9443866|PMID:9450874|PMID:9450906|PMID:9463314|PMID:9488043|PMID:9497252|PMID:9536098|PMID:9537233|PMID:9600235|PMID:9622061|PMID:9682216|PMID:9711876|PMID:9733514|PMID:9764584|PMID:9792409|PMID:9792410|PMID:9872980|PMID:9887333|PMID:9892178
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:10023947|PMID:10234507|PMID:10330348|PMID:10397742|PMID:10416970|PMID:10425038|PMID:10534763|PMID:10677309|PMID:10706620|PMID:10738255|PMID:10767628|PMID:10817650|PMID:10864201|PMID:10873394|PMID:1098053|PMID:10980530|PMID:11054065|PMID:11078475|PMID:11173867|PMID:11298136|PMID:11382771|PMID:11443540|PMID:11468183|PMID:11505391|PMID:11516106|PMID:11526498|PMID:1160401|PMID:11606401|PMID:11746755|PMID:11756177|PMID:11756185|PMID:11805335|PMID:11821961|PMID:11826028|PMID:11830610|PMID:11839094|PMID:11849780|PMID:11857346|PMID:11889466|PMID:11897820|PMID:11897822|PMID:11996792|PMID:12072877|PMID:12091354|PMID:12105990|PMID:12149228|PMID:12195425|PMID:12362033|PMID:12400598|PMID:12473176|PMID:12473594|PMID:12497634|PMID:12511424|PMID:12552559|PMID:12552566|PMID:12637545|PMID:12646636|PMID:12655570|PMID:12673794|PMID:12673797|PMID:12673804|PMID:12697903|PMID:12708462|PMID:12745884|PMID:12810666|PMID:12815592|PMID:12882767|PMID:12883528|PMID:12917204|PMID:12935922|PMID:12935933|PMID:12969974|PMID:12970738|PMID:1300551|PMID:133608|PMID:14562025|PMID:14576320|PMID:14586414|PMID:14627829|PMID:14634505|PMID:14643952|PMID:14654357|PMID:14695186|PMID:14695534|PMID:14695997|PMID:14735203|PMID:14754616|PMID:14970866|PMID:15039971|PMID:15042666|PMID:15054841|PMID:15101044|PMID:15164409|PMID:15174027|PMID:15196260|PMID:15217508|PMID:15279808|PMID:15280931|PMID:15390180|PMID:15450731|PMID:15498871|PMID:15629612|PMID:15643608|PMID:15696190|PMID:15713674|PMID:15756685|PMID:15824023|PMID:15824150|PMID:15843990|PMID:15880680|PMID:15880721|PMID:15928302|PMID:16014569|PMID:16029571|PMID:16035317|PMID:16112413|PMID:16140923|PMID:16167060|PMID:16189143|PMID:16199547|PMID:16238588|PMID:16266405|PMID:1632451|PMID:16380133|PMID:16387360|PMID:16411093|PMID:16461462|PMID:16574953|PMID:16603769|PMID:16622469|PMID:16631465|PMID:16652348|PMID:16741161|PMID:16832357|PMID:16864838|PMID:16914028|PMID:16941484|PMID:16953663|PMID:16958054|PMID:16998505|PMID:17000706|PMID:17001622|PMID:17001642|PMID:17023046|PMID:17124347|PMID:17132159|PMID:17166884|PMID:17187232|PMID:17203191|PMID:17293864|PMID:17298726|PMID:17333338|PMID:17341484|PMID:17344846|PMID:17351744|PMID:17376192|PMID:17389389|PMID:1739330|PMID:17393301|PMID:17490827|PMID:17502119|PMID:17517479|PMID:17535973|PMID:17540590|PMID:17576681|PMID:17623063|PMID:17640065|PMID:17699107|PMID:17876757|PMID:17910737|PMID:17968022|PMID:17985259|PMID:18066086|PMID:18164969|PMID:18174244|PMID:18261794|PMID:18321536|PMID:18384426|PMID:18414213|PMID:18431795|PMID:18433505|PMID:1849795|PMID:18497957|PMID:18502988|PMID:18504682|PMID:18560558|PMID:18565893|PMID:18573109|PMID:18575927|PMID:18634022|PMID:18701470|PMID:18807267|PMID:18813293|PMID:18846412|PMID:19018867|PMID:19081671|PMID:19147735|PMID:19347964|PMID:19404735|PMID:1943118|PMID:19431188|PMID:19440741|PMID:1953577|PMID:19535770|PMID:19605768|PMID:19638463|PMID:19683821|PMID:19691550|PMID:19705055|PMID:19763152|PMID:19770270|PMID:19773425|PMID:197781682|PMID:19779456|PMID:19781682|PMID:19823873|PMID:19931588|PMID:20051774|PMID:20077034|PMID:20111735|PMID:20124459|PMID:20153123|PMID:20232390|PMID:20301790|PMID:20305132|PMID:20307669|PMID:20308662|PMID:20346647|PMID:20480175|PMID:20544271|PMID:20678261|PMID:20717907|PMID:20826828|PMID:20840352|PMID:20927582|PMID:20945614|PMID:20966255|PMID:20981092|PMID:21150274|PMID:21164480|PMID:21346221|PMID:21354641|PMID:21396839|PMID:21445571|PMID:21447618|PMID:21459046|PMID:21514219|PMID:21520333|PMID:21593342|PMID:2166257|PMID:21665257|PMID:21665297|PMID:21681852|PMID:21778326|PMID:21787400|PMID:21792198|PMID:21833744|PMID:21893220|PMID:21910157|PMID:21933854|PMID:21965147|PMID:21993670|PMID:22006793|PMID:22017321|PMID:22071889|PMID:22130802|PMID:22146522|PMID:22200977|PMID:22213089|PMID:22234840|PMID:22250480|PMID:22345219|PMID:22354567|PMID:22369572|PMID:22406018|PMID:22420423|PMID:22438227|PMID:22527104|PMID:22529920|PMID:22585167|PMID:22585170|PMID:22649200|PMID:22674506|PMID:22763152|PMID:22869595|PMID:22895193
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:22927201|PMID:22927308|PMID:22952040|PMID:22995991|PMID:23074045|PMID:23075580|PMID:23091097|PMID:23114601|PMID:23142947|PMID:23143971|PMID:23211698|PMID:23264026|PMID:23322442|PMID:23360865|PMID:23369113|PMID:23376243|PMID:23454770|PMID:23509889|PMID:23532176|PMID:23555315|PMID:23561644|PMID:23566627|PMID:23585368|PMID:23585524|PMID:23612382|PMID:23632773|PMID:23640770|PMID:23652012|PMID:23667852|PMID:23671275|PMID:23726790|PMID:23761041|PMID:23774824|PMID:23807571|PMID:23810757|PMID:23836671|PMID:23946315|PMID:23960188|PMID:24033266|PMID:24088041|PMID:24090759|PMID:24113346|PMID:24120321|PMID:24142997|PMID:24172824|PMID:24197801|PMID:24201163|PMID:24204193|PMID:24325359|PMID:24326041|PMID:24356096|PMID:24368146|PMID:24405665|PMID:24416720|PMID:24422204|PMID:24448499|PMID:24506781|PMID:24512911|PMID:24549055|PMID:24556621|PMID:24568663|PMID:24628946|PMID:24643969|PMID:24667671|PMID:24682267|PMID:24695838|PMID:24728327|PMID:24733792|PMID:24763289|PMID:24789685|PMID:24825865|PMID:24831771|PMID:24834793|PMID:24853695|PMID:24886963|PMID:2491181|PMID:24920063|PMID:24935205|PMID:24951259|PMID:24954719|PMID:24970356|PMID:24983367|PMID:25032865|PMID:25037873|PMID:25040471|PMID:25042771|PMID:25058500|PMID:25077176|PMID:25101980|PMID:25117502|PMID:25122203|PMID:25133958|PMID:25148578|PMID:25151137|PMID:25159481|PMID:25182519|PMID:25186627|PMID:25231023|PMID:25257301|PMID:25275298|PMID:25303977|PMID:25318351|PMID:25320358|PMID:25326635|PMID:25326637|PMID:25330149|PMID:25356970|PMID:25374739|PMID:25428789|PMID:25452441|PMID:25460276|PMID:25479140|PMID:25480502|PMID:25502423|PMID:25503501|PMID:25523272|PMID:25525159|PMID:2557216|PMID:25572163|PMID:25587027|PMID:25589003|PMID:25600502|PMID:25614872|PMID:25625042|PMID:25640679|PMID:25741868|PMID:25749350|PMID:25793145|PMID:25862857|PMID:25877891|PMID:25882375|PMID:25892863|PMID:25914063|PMID:25925381|PMID:25925954|PMID:25938944|PMID:25957637|PMID:25980754|PMID:26009992|PMID:26010451|PMID:26022348|PMID:26023681|PMID:26053404|PMID:26085511|PMID:26094658|PMID:26098866|PMID:26112015|PMID:26123645|PMID:26155992|PMID:26164066|PMID:26181193|PMID:26182300|PMID:26193622|PMID:26206375|PMID:26207792|PMID:26214590|PMID:26220245|PMID:26238431|PMID:26246601|PMID:26247737|PMID:26250988|PMID:26270727|PMID:26296696|PMID:26296701|PMID:26317927|PMID:26320869|PMID:26380989|PMID:26439923|PMID:26466571|PMID:26467025|PMID:26483394|PMID:26506520|PMID:26517685|PMID:26530882|PMID:26534844|PMID:26556299|PMID:26580448|PMID:26628246|PMID:26630574|PMID:26633542|PMID:26633545|PMID:26635394|PMID:26658419|PMID:26662178|PMID:26667234|PMID:26677768|PMID:26681312|PMID:26689913|PMID:26692440|PMID:26693373|PMID:26757417|PMID:26771497|PMID:2677459|PMID:26774591|PMID:26778106|PMID:26786923|PMID:26787654|PMID:26822949|PMID:26824983|PMID:26837699|PMID:26845104|PMID:26846839|PMID:26854966|PMID:26878173|PMID:26896183|PMID:26898890|PMID:26901136|PMID:26911350|PMID:26915675|PMID:26917275|PMID:26976419|PMID:27016235|PMID:27034805|PMID:27039262|PMID:27043212|PMID:27064202|PMID:27067391|PMID:27083775|PMID:27093186|PMID:27097373|PMID:27121310|PMID:27146902|PMID:27149842|PMID:27150160|PMID:27153395|PMID:27159176|PMID:27175599|PMID:27200287|PMID:27224988|PMID:27276934|PMID:27304073|PMID:27322425|PMID:27365426|PMID:27375234|PMID:27413114|PMID:27433846|PMID:27443514|PMID:27449771|PMID:27460089|PMID:27468087|PMID:27479817|PMID:27484032|PMID:27498913|PMID:27528516|PMID:27535334|PMID:27553368|PMID:27568332|PMID:27581129|PMID:27595995|PMID:27599564|PMID:27602502|PMID:27613453|PMID:27616075|PMID:27621404|PMID:27664052|PMID:27671921|PMID:27720647|PMID:27732944|PMID:27756406|PMID:27779110|PMID:27782108|PMID:27798748|PMID:27803004|PMID:27844328|PMID:27871447|PMID:27873105|PMID:27878467|PMID:27884168|PMID:27896999|PMID:27913932|PMID:27932211|PMID:27978560|PMID:27980538|PMID:27988859|PMID:27989354|PMID:27997549|PMID:28007021|PMID:28008555|PMID:28051113|PMID:28054583|PMID:28055970|PMID:28076423|PMID:28087566|PMID:28093192|PMID:28093616|PMID:28119368
12057995	ATM	ATM serine/threonine kinase	gene	DOID:12704	ataxia telangiectasia		ISO	RGD:1606040	D	RGD:8554872	20230214	ClinVar		ClinVar Annotator: match by term: Ataxia-telangiectasia | ClinVar Annotator: match by term: Ataxia-telangiectasia syndrome | ClinVar Annotator: match by term: Ataxia-telangiectasia without immunodeficiency | ClinVar Annotator: match by term: Louis-Bar syndrome	PMID:28120234|PMID:28123174|PMID:28125075|PMID:28126470|PMID:28135048|PMID:28135145|PMID:28139868|PMID:28152038|PMID:28170084|PMID:28182994|PMID:28195393|PMID:28196074|PMID:28202063|PMID:28211887|PMID:28259476|PMID:28281021|PMID:28281318|PMID:28282032|PMID:28338653|PMID:28423360|PMID:28423363|PMID:28423702|PMID:28440963|PMID:28451460|PMID:28486781|PMID:28488180|PMID:28492530|PMID:28492532|PMID:28497333|PMID:28503720|PMID:28508083|PMID:28528518|PMID:28569218|PMID:28580595|PMID:28591191|PMID:28608266|PMID:28640387|PMID:28652578|PMID:28657667|PMID:28687356|PMID:28687971|PMID:28716242|PMID:28717660|PMID:28724667|PMID:28726808|PMID:28767289|PMID:28779002|PMID:28825054|PMID:28828701|PMID:28830922|PMID:28843361|PMID:28849312|PMID:28873162|PMID:28875981|PMID:28878254|PMID:28894253|PMID:28898322|PMID:28956312|PMID:28975465|PMID:29036293|PMID:29053726|PMID:29058119|PMID:29059438|PMID:29101607|PMID:29127364|PMID:29141312|PMID:29144541|PMID:29163336|PMID:29263802|PMID:29271107|PMID:29335925|PMID:29356034|PMID:29360161|PMID:29368341|PMID:29371908|PMID:29415044|PMID:29423082|PMID:29449433|PMID:29458332|PMID:29470806|PMID:29478780|PMID:29482223|PMID:29486991|PMID:29487225|PMID:29492593|PMID:29506079|PMID:29506128|PMID:29522266|PMID:29555025|PMID:29555771|PMID:29596542|PMID:29600275|PMID:29625052|PMID:29641532|PMID:29642553|PMID:29659569|PMID:29659587|PMID:29664460|PMID:29665859|PMID:29667044|PMID:29678143|PMID:29684080|PMID:29719442|PMID:29731985|PMID:29752822|PMID:29753700|PMID:29754934|